SPG7 - SPG7 matrix AAA peptidase subunit, paraplegin Gene

Homo sapiens

Also known as CAR; PGN; CMAR; SPG5C

Gene ID: 6687 | Gene type: protein coding

About SPG7

Cytogenetic location: 16q24.3 Genomic coordinates (GRCh38): 16:89,508,388-89,557,768 (from NCBI)

This gene has 96 transcripts (splice variants), 213 orthologues, 2 paralogues and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 11.5), skin (RPKM 10.1) and 25 other tissues.

Summary

This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014]

SPG7 Products(3)

mRNA	Protein	Name
NM_001363850.1	NP_001350779.1	paraplegin isoform 3
NM_003119.4	NP_003110.1	paraplegin isoform 1 precursor
NM_199367.3	NP_955399.1	paraplegin isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables metalloendopeptidase activity	IDA IDA: Inferred from direct assay	28396416	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	14623864	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mitochondrial outer membrane permeabilization involved in programmed cell death	IMP IMP: Inferred from mutant phenotype	26387735	GOA
involved in regulation of calcium import into the mitochondrion	IDA IDA: Inferred from direct assay	28396416	GOA
involved in regulation of mitochondrial membrane permeability	IMP IMP: Inferred from mutant phenotype	26387735	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of m-AAA complex	IDA IDA: Inferred from direct assay	28396416	GOA
is active in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	9635427	GOA
part of mitochondrial permeability transition pore complex	IDA IDA: Inferred from direct assay	26387735	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SPG7 Protein Structure

FtsH_ext

AAA

Peptidase_M41

0
200
400
600
795 a.a.

Protein Preferred Names

Protein Names

paraplegin

SPG7, paraplegin matrix AAA peptidase subunit

SPG7 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SPG7	Q9UQ90	KRT40	Homo sapiens	Q6A162	Y2H Array	25416956
Intra	SPG7	Q9UQ90	KRTAP10-9	Homo sapiens	P60411	Y2H Array	25416956
Intra	SPG7	Q9UQ90	KRTAP10-9	Homo sapiens	P60411	Y2H Prey Pooling	25416956
Intra	SPG7	Q9UQ90	KRTAP10-7	Homo sapiens	P60409	Validated Y2H	25416956
Intra	SPG7	Q9UQ90	KRTAP10-7	Homo sapiens	P60409	Y2H Prey Pooling	25416956
Intra	SPG7	Q9UQ90	PSTPIP1	Homo sapiens	O43586	Y2H Prey Pooling	25416956
Intra	SPG7	Q9UQ90	NOTCH2NLC	Homo sapiens	P0DPK4	Y2H Prey Pooling	32296183
Intra	SPG7	Q9UQ90	NOTCH2NLC	Homo sapiens	P0DPK4	Y2H Array	32296183
Intra	SPG7	Q9UQ90	PNMA1	Homo sapiens	Q8ND90	Validated Y2H	25416956
Intra	SPG7	Q9UQ90	PNMA1	Homo sapiens	Q8ND90	Y2H Array	25416956
Intra	SPG7	Q9UQ90	PNMA1	Homo sapiens	Q8ND90	Y2H Array	32296183
Intra	SPG7	Q9UQ90	PNMA1	Homo sapiens	Q8ND90	Y2H Prey Pooling	32296183
Intra	SPG7	Q9UQ90	HNRNPK	Homo sapiens	P61978	Y2H Prey Pooling	25416956
Intra	SPG7	Q9UQ90	HNRNPK	Homo sapiens	P61978	Y2H Array	25416956
Intra	SPG7	Q9UQ90	PSME3	Homo sapiens	P61289	Y2H Array	25416956
Intra	SPG7	Q9UQ90	PSME3	Homo sapiens	P61289	Validated Y2H	25416956
Intra	SPG7	Q9UQ90	PSME3	Homo sapiens	P61289	Y2H Prey Pooling	25416956
Intra	SPG7	Q9UQ90	CYSRT1	Homo sapiens	A8MQ03	Y2H Array	32296183
Intra	SPG7	Q9UQ90	CYSRT1	Homo sapiens	A8MQ03	Y2H Prey Pooling	32296183
Intra	SPG7	Q9UQ90	HNRNPK	Homo sapiens	P61978-2	Y2H Prey Pooling	32296183
Intra	SPG7	Q9UQ90	HNRNPK	Homo sapiens	P61978-2	Y2H Array	32296183
Intra	SPG7	Q9UQ90	HSF2BP	Homo sapiens	O75031	Y2H Array	32296183
Intra	SPG7	Q9UQ90	HSF2BP	Homo sapiens	O75031	Y2H Prey Pooling	32296183
Intra	SPG7	Q9UQ90	NDUFB9	Homo sapiens	Q9Y6M9	Anti Tag CoIP	28514442
Intra	SPG7	Q9UQ90	NDUFB9	Homo sapiens	Q9Y6M9	Anti Tag CoIP	33961781
Intra	SPG7	Q9UQ90	MDFI	Homo sapiens	Q99750	Y2H Prey Pooling	32296183
Intra	SPG7	Q9UQ90	MDFI	Homo sapiens	Q99750	Validated Y2H	32296183
Intra	SPG7	Q9UQ90	MDFI	Homo sapiens	Q99750	Y2H Array	25416956
Intra	SPG7	Q9UQ90	MDFI	Homo sapiens	Q99750	Y2H Array	32296183
Intra	SPG7	Q9UQ90	MDFI	Homo sapiens	Q99750	Y2H Prey Pooling	25416956
Intra	SPG7	Q9UQ90	LZTS2	Homo sapiens	Q9BRK4	Y2H Array	25416956
Intra	SPG7	Q9UQ90	KHDRBS2	Homo sapiens	Q5VWX1	Y2H Prey Pooling	25416956
Intra	SPG7	Q9UQ90	KHDRBS2	Homo sapiens	Q5VWX1	Validated Y2H	25416956
Intra	SPG7	Q9UQ90	MTUS2	Homo sapiens	Q5JR59	Y2H Prey Pooling	25416956
Intra	SPG7	Q9UQ90	MTUS2	Homo sapiens	Q5JR59	Y2H	21516116
Intra	SPG7	Q9UQ90	MTUS2	Homo sapiens	Q5JR59	Validated Y2H	25416956
Intra	SPG7	Q9UQ90	MTUS2	Homo sapiens	Q5JR59	Y2H Array	25416956
Intra	SPG7	Q9UQ90	CCNDBP1	Homo sapiens	O95273	Validated Y2H	25416956
Intra	SPG7	Q9UQ90	CCNDBP1	Homo sapiens	O95273	Y2H Array	25416956
Intra	SPG7	Q9UQ90	NOTCH2NLA	Homo sapiens	Q7Z3S9	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Spastic Paraplegia 7, Autosomal Recessive

SPG7	Hereditary Spastic Paraplegia 7
Spastic Paraplegia Type 7	Spastic Paraplegia 7
Hereditary Spastic Paraplegia, Paraplegin Type	Autosomal Recessive Spastic Paraplegia 7
Hereditary Spastic Paraplegia Paraplegin Type	Spastic Paraplegia-7
Paraplegia, Spastic, Autosomal Recessive, Type 7	Spastic Paraplegia, Hereditary
Autosomal Recessive Hereditary Spastic Paraplegia

Lateral Sclerosis

Primary Lateral Sclerosis	Adult-Onset Primary Lateral Sclerosis
Adult-Onset Pls	Motor Neuron Disease
Pls	Pls - [Primary Lateral Sclerosis]
Lateral Spinal Sclerosis	Lateral Complete Paralysis
Lateral Incomplete Paralysis	Lateral Paralysis

Polyneuropathy

Polyneuropathies

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Spastic Ataxia

Spax	Ataxia, Spastic

Spastic Paraparesis

Mitochondrial Disease

Mitochondrial Diseases

Mitochondrial Disorder

Paraplegia

Paraplegia, Lower

Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk

Spastic Paraplegia 20, Autosomal Recessive

Troyer Syndrome	SPG20
Spastic Paraparesis, Childhood-Onset, With Distal Muscle Wasting	Spastic Paraplegia, Autosomal Recessive, Troyer Type
Autosomal Recessive Spastic Paraplegia Type 20	Autosomal Recessive Hereditary Spastic Paraplegia
Spastic Paraplegia 20	Cross-Mckusick Syndrome
Autosomal Recessive Spastic Paraplegia 20	Autosomal Recessive Spastic Paraplegia Troyer Type
Childhood-Onset Spastic Paraparesis With Distal Muscle Wasting	Hereditary Spastic Paraplegia 20
Spastic Paraplegia Type 20	Hereditary Spastic Paraplegia
Childhood-Onset Spastic Paraparesis-Distal Muscle Wasting Syndrome	Spastic Paraparesis Childhood-Onset With Distal Muscle Wasting
Spastic Paraplegia Autosomal Recessive Troyer Type	Trs
Spastic Paraplegia Hereditary Autosomal Recessive	Spastic Paraplegia, Hereditary

Spinocerebellar Ataxia 28

Spinocerebellar Ataxia Type 28	SCA28
Ataxia, Spinocerebellar, Type 28

Spastic Ataxia 5

Hypoparathyroidism

Hypoparathyroidism, Idiopathic	Parathyroid, Underactivity Of
Syndrome With Hypoparathyroidism	Deficiency Of Parathyroid Hormone
Parathyroid Gland Insufficiency	Parathyroid Insufficiency
Hypoparathyroidism Due To Impaired Pth - [Parathyroid Hormone] Secretion

Spasticity

Spastic Paraplegia 11, Autosomal Recessive

SPG11	Hereditary Spastic Paraplegia 11
Hsp-Tcc	Autosomal Recessive Spastic Paraplegia Type 11
Nakamura-Osame Syndrome	Spastic Paraplegia-Intellectual Disability-Thin Corpus Callosum Syndrome
Spastic Paraplegia, Autosomal Recessive, With Mental Impairment And Thin Corpus Callosum	Spastic Paraplegia, Autosomal Recessive, Complicated, With Thin Corpus Callosum
Autosomal Recessive Spastic Paraplegia 11	Autosomal Recessive Spastic Paraplegia Complicated With Thin Corpus Callosum
Autosomal Recessive Spastic Paraplegia With Mental Impairment And Thin Corpus Callosum	Arhsp-Tcc
Autosomal Recessive Spastic Paraplegia With Thinning Of Corpus Callosum	Spastic Paraplegia Autosomal Recessive Complicated With Thin Corpus Callosum
Spastic Paraplegia Autosomal Recessive With Mental Impairment And Thin Corpus Callosum	Paraplegia, Spastic, Autosomal Recessive, Type 11
Nakamura Osame Syndrome

Hereditary Spastic Paraplegia 35

Autosomal Recessive Spastic Paraplegia Type 35	Spg35
Autosomal Recessive Spastic Paraplegia 35	Fahn
Fatty Acid Hydroxylase-Associated Neurodegeneration	Leukodystrophy, Dysmyelinating And Spastic Paraparesis With Or Without Dystonia

Spastic Paraplegia 3, Autosomal Dominant

SPG3A	Strumpell Disease
Hereditary Spastic Paraplegia 3a	SPG3
Fsp1	Autosomal Dominant Spastic Paraplegia Type 3
Familial Spastic Paraplegia, Autosomal Dominant, 1	Spastic Paraplegia 3a, Autosomal Dominant
Autosomal Dominant Familial Spastic Paraplegia 1	Autosomal Dominant Spastic Paraplegia 3
Spastic Paraplegia 3	Familial Spastic Paraplegia Autosomal Dominant 1
Strumpell-Lorrain Syndrome	Paraplegia, Spastic, Autosomal Dominant, Type 3a
Spastic Paraplegia, Hereditary

Secondary Hyperparathyroidism

Hyperparathyroidism Secondary	Hyperparathyroidism, Secondary
Secondary Hyperparathyroidism Nec

Spastic Paraplegia 13, Autosomal Dominant

SPG13	Hereditary Spastic Paraplegia 13
Autosomal Dominant Spastic Paraplegia 13	Spastic Paraplegia 13
Autosomal Dominant Spastic Paraplegia Type 13	Spastic Paraplegia-13
Paraplegia, Spastic, Type 13

Spastic Paraplegia 8, Autosomal Dominant

SPG8	Hereditary Spastic Paraplegia 8
Autosomal Dominant Spastic Paraplegia Type 8	Autosomal Dominant Spastic Paraplegia 8
Paraplegia, Spastic, Autosomal Dominant, Type 8

Spastic Paraplegia 54, Autosomal Recessive

SPG54	Hereditary Spastic Paraplegia 54
Autosomal Recessive Spastic Paraplegia Type 54	Autosomal Recessive Spastic Paraplegia 54
Paraplegia, Spastic, Type 54, Autosomal Recessive

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy	3-Methylglutaconic Aciduria Type 3
Costeff Syndrome	Mga3
Costeff Optic Atrophy Syndrome	Optic Atrophy Plus Syndrome
Infantile Optic Atrophy With Chorea And Spastic Paraplegia	3-Methylglutaconic Aciduria Type Iii
Autosomal Recessive Optic Atrophy Plus Syndrome	Autosomal Recessive Optic Atrophy Type 3
Opa3 Defect	MGCA3
Mga, Type Iii	Iraqi Jewish Optic Atrophy Plus
Mga Type Iii	Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia
Iraqi-Jewish 'Optic Atrophy Plus'	Optic Atrophy 3, Autosomal Recessive
Opa3, Autosomal Recessive	Opa3-Related 3-Methylglutaconic Aciduria
Iraqi-Jewish Optic Atrophy Plus	Atrophy Of Optic Disc
3-Alpha Methylglutaconic Aciduria Type Iii	Optic Atrophy 3
Optic Atrophy Infantile With Chorea And Spastic Paraplegia	Autosomal Recessive Opa3
Autosomal Recessive Optic Atrophy 3	3-Methylglutaconic Aciduria 3
3-Alpha-Methylglutaconic Aciduria Type 3	Optic Atrophy 3 Autosomal Recessive
Atrophy, Optic	Atrophy, Optic, Plus Syndrome
Optic Nerve Atrophy	Primary Optic Atrophy
Oa - [Optic Atrophy]	Second Cranial Nerve Atrophy
Second Cranium Nerve Atrophy

Spastic Paraplegia 18, Autosomal Recessive

SPG18	Idmdc
Hereditary Spastic Paraplegia 18	Intellectual Disability, Motor Dysfunction, And Joint Contractures
Autosomal Recessive Spastic Paraplegia Type 18	Autosomal Recessive Spastic Paraplegia 18
Intellectual Disability, Motor Dysfunction And Joint Contractures	Spastic Paraplegia 18
Intellectual Disability Motor Dysfunction And Joint Contractures	Paraplegia, Spastic, Type 18

Hereditary Spastic Paraplegia 30

Autosomal Spastic Paraplegia Type 30	Spg30
Autosomal Recessive Spastic Paraplegia 30

Spastic Paraplegia 77, Autosomal Recessive

SPG77	Hereditary Spastic Paraplegia 77
Autosomal Recessive Spastic Paraplegia 77	Autosomal Recessive Spastic Paraplegia Type 77

Spastic Paraplegia 2, X-Linked

SPG2	Hereditary Spastic Paraplegia 2
Sppx2	Spastic Paraplegia Type 2
Spastic Paraplegia 2	Hereditary X-Linked Recessive Spastic Paraplegia
X-Linked Spastic Paraplegia 2	X Linked Recessive Hereditary Spastic Paraplegia
Spastic Gait Type 2	Spastic Paraparesis Type 2
X-Linked Spastic Paraplegia Type 2	Spastic Paraplegia Type 2, X-Linked
Spastic Paraplegia-2	Paraplegia, Spastic, Type 2

Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy

Peripheral Neuropathy And Optic Atrophy	Cmt6
Charcot-Marie-Tooth Disease Type 6	Hmsn Vi
HMSN6A	Hmsn Via
Hmsn6	Cmt6a
Charcot-Marie-Tooth Disease, Type 6	Hereditary Motor And Sensory Neuropathy Type 6
Hereditary Motor And Sensory Neuropathy Type Vi	Neuropathy, Hereditary Motor And Sensory, Type 6a
Neuropathy, Hereditary Motor And Sensory, Type Vi	Charcot-Marie-Tooth Disease, Type 6a
Hereditary Motor And Sensory Neuropathy Via	Hmsn 6
Neuropathy, Hereditary Motor And Sensory, 6a, With Optic Atrophy	Charcot-Marie-Tooth Disease 6
Charcot-Marie-Tooth Disease 6a	Hereditary Motor And Sensory Neuropathy Type Via
Hereditary Motor And Sensory Neuropathy Vi

Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures

OPA10	Optic Atrophy 10 With Or Without Ataxia, Intellectual Disability, And Seizures
Optic Atrophy 10	Atrophy, Optic, Type 10, With/Without Ataxia, Mental Retardation, And Seizures

Kearns-Sayre Syndrome

Ophthalmoplegia	Mitochondrial Cytopathy
KSS	Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy
Oculocraniosomatic Syndrome	Chronic Progressive External Ophthalmoplegia With Myopathy
Cpeo With Myopathy	Total Ophthalmoplegia
Ophthalmoplegia-Plus Syndrome	Ophthalmoplegia, Progressive External, With Ragged-Red Fibers
Cpeo With Ragged-Red Fibers	Oculomotor Paralysis
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O	Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna
Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia	Cpeo With Ragged Red Fibers
Ophthalmoplegia Plus Syndrome	Ophthalmoplegia, Progressive External, With Ragged Red Fibers
Kearns-Sayre Mitochondrial Cytopathy	Mitochondrial Myopathies

Conjugate Gaze Palsy

Palsy Of Conjugate Gaze	Supranuclear Ocular Palsy
Gaze Palsy

Spastic Paraplegia 15, Autosomal Recessive

SPG15	Kjellin Syndrome
Hereditary Spastic Paraplegia 15	Spastic Paraplegia And Retinal Degeneration
Autosomal Recessive Spastic Paraplegia Type 15	Hereditary Spastic Paraparesis Type 15
Spastic Paraplegia-Retinal Degeneration Syndrome	Autosomal Recessive Spastic Paraplegia 15

Spastic Paraplegia 44, Autosomal Recessive

SPG44	Hereditary Spastic Paraplegia 44
Autosomal Recessive Spastic Paraplegia 44	Autosomal Recessive Spastic Paraplegia Type 44
Paraplegia, Spastic, Type 44, Autosomal Recessive

Motor Peripheral Neuropathy

Motor Neuritis	Peripheral Motor Neuropathy
Hereditary Motor And Sensory Neuropathy	Hsmn
Hsmn - Hereditary Sensory And Motor Neuropathy	Neuropathic Muscular Atrophy
Hereditary Sensory And Motor Neuropathy	Hereditary Motor And Sensory Neuropathies

Optic Atrophy 9

OPA9	Atrophy, Optic, Type 9

Spastic Paraplegia 10, Autosomal Dominant

SPG10	Hereditary Spastic Paraplegia 10
Autosomal Dominant Spastic Paraplegia Type 10	Spastic Paraplegia 10
Spastic Paraplegia 10 With Or Without Peripheral Neuropathy	Autosomal Dominant Spastic Paraplegia 10
Autosomal Dominant Spastic Paraplegia	Spastic Paraplegia, Autosomal Dominant
Paraplegia, Spastic, Autosomal Dominant, Type 10

Spastic Paraplegia 63, Autosomal Recessive

SPG63	Hereditary Spastic Paraplegia 63
Spastic Paraplegia 63	Autosomal Recessive Spastic Paraplegia 63
Autosomal Recessive Spastic Paraplegia Type 63	Paraplegia, Spastic, Type 63, Autosomal Recessive

Spastic Paraplegia 78, Autosomal Recessive

SPG78	Autosomal Recessive Spastic Paraplegia Type 78
Hereditary Spastic Paraplegia 78	Spastic Paraplegia 78 Autosomal Recessive
Doid:0112348

Spastic Paraplegia 6, Autosomal Dominant

SPG6	Fsp3
Hereditary Spastic Paraplegia 6	Autosomal Dominant Spastic Paraplegia Type 6
Spastic Paraplegia 6	Familial Spastic Paraplegia Autosomal Dominant 3
Familial Spastic Paraplegia, Autosomal Dominant, 3	Autosomal Dominant Familial Spastic Paraplegia Type 3
Autosomal Dominant Spastic Paraplegia 6	Spastic Paraplegia-6
Paraplegia, Spastic, Type 6

Spastic Paraplegia 43, Autosomal Recessive

SPG43	Hereditary Spastic Paraplegia 43
Autosomal Recessive Spastic Paraplegia Type 43	Autosomal Recessive Spastic Paraplegia 43
Paraplegia, Spastic, Type 43, Autosomal Recessive

Spastic Paraplegia 55, Autosomal Recessive

SPG55	Hereditary Spastic Paraplegia 55
Autosomal Recessive Spastic Paraplegia Type 55	Autosomal Recessive Spastic Paraplegia 55
Paraplegia, Spastic, Autosomal Recessive, Type 55

Masa Syndrome

L1 Syndrome	Crash Syndrome
X-Linked Hydrocephalus Syndrome	SPG1
Gareis-Mason Syndrome	Spastic Paraplegia 1, X-Linked
Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome	L1cam Syndrome
Spastic Paraplegia 1	Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs
Clasped Thumb And Mental Retardation	Thumb, Congenital Clasped, With Mental Retardation
Adducted Thumb With Mental Retardation	Hereditary Spastic Paraplegia 1
X-Linked Complicated Hereditary Spastic Paraplegia Type 1	X-Linked Corpus Callosum Agenesis
X-Linked Spastic Paraplegia 1	L1 Disease
X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis	Adducted Thumb With Intellectual Disability
Clasped Thumb And Intellectual Disability	Intellectual Disability Aphasia Shuffling Gait Adducted Thumbs
Thumb Congenital Clasped With Intellectual Disability	X-Linked Intellectual Disability-Corpus Callosum Agenesis-Spastic Quadriparesis Syndrome
Adducted Thumbs-Mental Retardation Syndrome	Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome
Mental Retardation-Clasped Thumb Syndrome	Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome
Spastic Paraplegia Type 1, X-Linked	MASA
Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus	Crash
Masa Syndrome

Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis

SANDO	Mitochondrial Recessive Ataxia Syndrome
Spinocerebellar Ataxia With Epilepsy	Epilepsy, Progressive Myoclonic 5
Epm5	Miras
SCAE	Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive
Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions	Progressive Myoclonic Epilepsy Type 5
Pme Type 5	Progressive Myoclonus Epilepsy Type 5
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Recessive Mitochondrial Ataxia Syndrome
Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis	Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome
Mscae	Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive
Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy	Epilepsy, Progressive Myoclonic, 5
Ataxia Neuropathy Spectrum

Myasthenic Syndrome, Congenital, 4c, Associated With Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome 4c	CMS4C
Cms Id	Cms1d
Congenital Myasthenic Syndrome Type Id	Fim1
Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency	Myasthenic Syndrome, Congenital, Type Id
Cms1d, Formerly	Cms Id, Formerly
Myasthenia, Familial Infantile, 1, Formerly	Fim1, Formerly
Congenital Myasthenic Syndrome 4c Associated With Acetylcholine Receptor Deficiency	Familial Infantile Myasthenia 1
Cms1e	Cms-Achrd
Cms Ie	Congenital Myasthenic Syndrome Post-Synaptic Associated With Acetylcholine Receptor Deficiency
Congenital Myasthenic Syndrome Type 1d	Congenital Myasthenic Syndrome Type 1e
Congenital Myasthenic Syndrome Type Ie	Congenital Myasthenic Syndrome With Facial Dysmorphism Associated With Acetylcholine Receptor Deficiency
Myasthenia, Familial Infantile, 1	Myasthenic Syndrome, Congenital, Type 4c, Associated With Acetylcholine Receptor Deficiency
Myasthenic Syndrome, Congenital, Ie

Spastic Paraplegia 14, Autosomal Recessive

SPG14	Hereditary Spastic Paraplegia 14
Autosomal Recessive Spastic Paraplegia Type 14	Autosomal Recessive Spastic Paraplegia 14
Spastic Paraplegia 14

Behr Syndrome

BEHRS	Abortive Cerebellar Ataxia
Optic Atrophy, Infantile Hereditary, With Neurologic Abnormalities	Optic Atrophy, Infantile Hereditary, Behr Complicated Form Of
Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Mental Retardation, And Posterior Column Sensory Loss	Obsolete: Behr Syndrome
Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Intellectual Disability, And Posterior Column Sensory Loss	Infantile Hereditary Optic Atrophy With Neurologic Abnormalities

Codas Syndrome

Cerebral, Ocular, Dental, Auricular, And Skeletal Anomalies Syndrome	Cerebral, Ocular, Dental, Auricular, And Skeletal Syndrome
Cerebro-Oculo-Dento-Auriculo-Skeletal Syndrome	Cerebrooculodentoauriculoskeletal Syndrome
CODASS	Cerebral, Ocular, Dental, Auricular, Skeletal Syndrome

Spastic Paraplegia 74, Autosomal Recessive

SPG74	Hereditary Spastic Paraplegia 74
Autosomal Recessive Spastic Paraplegia 74	Autosomal Recessive Spastic Paraplegia Type 74
Paraplegia, Spastic, Autosomal Recessive, Type 74

Chronic Progressive External Ophthalmoplegia

Progressive External Ophthalmoplegia	Cpeo
Peo	Ophthalmoplegia, Chronic Progressive External
Ophthalmoplegia, External, Progressive, Chronic	Graefe Disease
Peo - [Progressive External Ophthalmoplegia]	Ophthalmoplegia Plus Syndrome

Spastic Paraplegia 61, Autosomal Recessive

SPG61	Hereditary Spastic Paraplegia 61
Autosomal Recessive Spastic Paraplegia Type 61	Autosomal Recessive Spastic Paraplegia 61
Paraplegia, Spastic, Type 61, Autosomal Recessive

Spastic Paraplegia 42, Autosomal Dominant

SPG42	Hereditary Spastic Paraplegia 42
Autosomal Dominant Spastic Paraplegia Type 42	Autosomal Dominant Spastic Paraplegia 42
Paraplegia, Spastic, Type 42, Autosomal Dominant

Spinocerebellar Ataxia, Autosomal Recessive 14

Autosomal Recessive Spinocerebellar Ataxia 14	SCAR14
Sparca1	Cerebellar Ataxia, Autosomal Recessive, Spectrin-Associated, 1
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Ataxie Spinocerebelleuse A Debut Infantile Avec Retard Psychomoteur
Autosomal Recessive Spinocerebellar Ataxia Type 14	Infantile-Onset Spinocerebellar Ataxia-Psychomotor Delay Syndrome
Sparca	Spectrin-Associated Autosomal Recessive Cerebellar Ataxia Type 1
Spinocerebellar Ataxia, Autosomal Recessive, 14	Spectrin-Associated Autosomal Recessive Cerebellar Ataxia 1
Ataxia, Spinocerebellar, Autosomal Recessive, Type 14

Hereditary Spastic Paraplegia 49

Autosomal Recessive Spastic Paraplegia Type 49	Autosomal Recessive Spastic Paraplegia 49
Spg49	Paraplegia, Spastic, Type 49, Autosomal Recessive

Cardiomyopathy, Familial Hypertrophic, 16

Hypertrophic Cardiomyopathy 16	CMH16
Cardiomyopathy, Hypertrophic, 16	Cardiomyopathy Familial Hypertrophic 16
Cardiomyopathy, Familial Hypertrophic 16	Cardiomyopathy, Hypertrophic, Familial, Type 16

Neuronopathy, Distal Hereditary Motor, Type Va

Dsmav	Distal Hereditary Motor Neuropathy Type V
Young Adult-Onset Distal Hereditary Motor Neuropathy	Neuronopathy, Distal Hereditary Motor, Type V
Distal Hereditary Motor Neuronopathy Type 5	Dhmn5
Distal Spinal Muscular Atrophy Type 5	HMN5A
Hmn5	Dhmn5a
Dhmn Va	Dsmava
Spinal Muscular Atrophy, Distal, With Upper Limb Predominance	Distal Hmn V
Autosomal Recessive Distal Spinal Muscular Atrophy Type 5	Dsma5
Young Adult-Onset Dhmn	Dhmn-V
Hmn V	Neuronopathy, Distal Hereditary Motor, Type 5a
Hmn 5a	Neuropathy, Distal Hereditary Motor, Type Va
Spinal Muscular Atrophy, Distal, Type Va	Spinal Muscular Atrophy, Distal, Type V
Distal Spinal Muscular Atrophy Type V	Distal Spinal Muscular Atrophy With Upper Limb Predominance
Distal Hereditary Motor Neuronopathy Type 5a	Distal Hmn Va
Distal Spinal Muscular Atrophy Type Va	Distal Hereditary Motor Neuropathy, Type V
Distal Hereditary Motor Neuronopathy, Type V	Distal Spinal Muscular Atrophy, Type V
Spinal Muscular Atrophy, Distal Type V	Distal Hereditary Motor Neuropathy Type 5
Neuronopathy, Distal Hereditary Motor, 5a	Dhmn V
Distal Hereditary Motor Neuronopathy Type Va	Distal Hereditary Motor Neuropathy Type Va
Dsma-V	Hmn Va
Spinal Muscular Atrophy Distal Type V	Spinal Muscular Atrophy Distal Type Va
Spinal Muscular Atrophy Distal With Upper Limb Predominance	Neuropathy, Distal Hereditary Motor, Type V
Neuropathy, Motor, Distal, Hereditary, Type Va

Spastic Paraplegia 79, Autosomal Recessive

Early-Onset Progressive Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome	SPG79
Neurodegeneration With Optic Atrophy, Childhood-Onset	Ndgoa
Hereditary Spastic Paraplegia 79	Spastic Paraplegia 79 Autosomal Recessive
Doid:0112344	Neurodegeneration, With Optic Atrophy, Childhood-Onset

Infantile Cerebellar-Retinal Degeneration

ICRD	Infantile Cerebellar Retinal Degeneration
Degeneration, Cerebellar-Retinal, Infantile

Parkinson Disease 7, Autosomal Recessive Early-Onset

Autosomal Recessive Early-Onset Parkinson Disease 7	PARK7
Parkinson'S Disease 7	Autosomal Recessive Early-Onset Parkinson'S Disease 7
Parkinson Disease 7	Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex Type 2
Autosomal Recessive Early-Onset Parkinson Disease Type 7	Parkinson Disease, Type 7

Cardiomyopathy, Familial Hypertrophic, 18

Hypertrophic Cardiomyopathy 18	CMH18
Cardiomyopathy, Hypertrophic, 18	Cardiomyopathy Familial Hypertrophic 18
Cardiomyopathy, Familial Hypertrophic 18	Cardiomyopathy, Hypertrophic, Familial, Type 18

Ocular Motility Disease

Ocular Motility Disorders	Abnormality Of Eye Movement
Disorder Of Eye Movements	Eye Movement Disorder
Eye Movement Disorders

Spinocerebellar Ataxia, Autosomal Recessive 8

Arca1	Autosomal Recessive Cerebellar Ataxia Type 1
SCAR8	Autosomal Recessive Spinocerebellar Ataxia 8
Autosomal Recessive Ataxia, Beauce Type	Recessive Ataxia Of Beauce
Syne1-Related Autosomal Recessive Cerebellar Ataxia	Ataxia, Recessive, Of Beauce
Cerebellar Ataxia, Autosomal Recessive, Type 1	Spinocerebellar Ataxia Autosomal Recessive 8
Autosomal Recessive Ataxia Beauce Type	Spinocerebellar Ataxia, Autosomal Recessive, 8
Ataxia Recessive Of Beauce	Ataxia, Spinocerebellar, Autosomal Recessive, Type 8

Nescav Syndrome

NESCAVS	Neurodegeneration And Spasticity With Or Without Cerebellar Atrophy Or Cortical Visual Impairment
Mrd9	Intellectual Disability, Autosomal Dominant 9
Mental Retardation, Autosomal Dominant 9, Formerly	Mrd9, Formerly
Autosomal Dominant Intellectual Disability 9	Autosomal Dominant Non-Syndromic Intellectual Disability 9
Mental Retardation, Autosomal Dominant 9

Optic Atrophy 3, Autosomal Dominant

Optic Atrophy 3	OPA3
Autosomal Dominant Optic Atrophy And Cataract	Optic Atrophy And Cataract, Autosomal Dominant
Autosomal Dominant Optic Atrophy Type 3	Optic Atrophy 3 With Cataract
Opa3, Autosomal Dominant	Adoac
Optic Atrophy, Cataract, And Neurologic Disorder	Autosomal Dominant Optic Atrophy 3
Optic Atrophy Type 3	Optic Atrophy 3 Autosomal Dominant
Atrophy, Optic, Type 3, Autosomal Dominant	3-Methylglutaconic Aciduria Type 3

Spastic Paraplegia 64, Autosomal Recessive

SPG64	Hereditary Spastic Paraplegia 64
Autosomal Recessive Spastic Paraplegia Type 64	Autosomal Recessive Spastic Paraplegia 64
Paraplegia, Spastic, Type 64, Autosomal Recessive

Cranial Nerve Disease

Cranial Nerve Disorder	Disorder Of Cranial Nerve
Cranial Nerve Diseases

Cardiomyopathy, Familial Hypertrophic, 17

Hypertrophic Cardiomyopathy 17	CMH17
Cardiomyopathy, Hypertrophic, 17	Cardiomyopathy Familial Hypertrophic 17
Cardiomyopathy, Familial Hypertrophic 17	Cardiomyopathy, Hypertrophic, Familial, Type 17

Giant Axonal Neuropathy 1, Autosomal Recessive

Giant Axonal Neuropathy	Giant Axonal Neuropathy 1
Gan	GAN1
Giant Axonal Neuropathy-1	Neuropathy, Giant Axonal
Giant Axonal Disease	Neuropathy, Axonal, Giant, Type 1

Mitochondrial Complex Iii Deficiency, Nuclear Type 2

Mitochondrial Complex Iii Deficiency Nuclear Type 2	MC3DN2
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	MC2DN3
Mitochondrial Complex 2 Deficiency, Nuclear Type 3	Mitochondrial Complex Iii Deficiency, Nuclear 2

Spastic Paraplegia 45, Autosomal Recessive

SPG45	Hereditary Spastic Paraplegia 45
Autosomal Recessive Spastic Paraplegia Type 45	Autosomal Recessive Spastic Paraplegia Type 65
Spg65	Autosomal Recessive Spastic Paraplegia 45
Paraplegia, Spastic, Type 45, Autosomal Recessive

Hereditary Ataxia

Sca	Spinocerebellar Ataxia
Ataxias Hereditary	Ataxias, Hereditary

Cerebellar Disease

Cerebellar Diseases	Cerebellar Dysfunction
Cerebellar Abnormality	Cerebellar Disorders

Optic Nerve Disease

Optic Neuropathy	Disorder Of The Second Nerve
Optic Nerve Disorder	Optic Nerve
Abnormality Of The Optic Nerve	Optic Nerve Disorders
Neuropathy, Optic	Disorder Of The Optic Nerve

Kbg Syndrome

KBGS	Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies
Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies	Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies
Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome	Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome

3-Methylglutaconic Aciduria

3-Methyl Glutaconic Aciduria

Mitochondrial Dna Depletion Syndrome 7

Ohaha Syndrome	Infantile Onset Spinocerebellar Ataxia
Iosca	Infantile-Onset Spinocerebellar Ataxia
Spinocerebellar Ataxia 8	MTDPS7
Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis	Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome
Sca8	Spinocerebellar Ataxia Infantile With Sensory Neuropathy
Spinocerebellar Ataxia, Infantile-Onset	Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, And Athetosis
Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy	Spinocerebellar Ataxia 8, Formerly
Sca8, Formerly	Iosca, Mitochondrial Dna Depletion Syndrome 7
Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis	Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form
Mtdna Depletion Syndrome, Hepatocerebrorenal Form	Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type
Ophthalmoplegia Hypotonia Ataxia Hypoacusis And Athetosis	Pure Spinocerebellar Ataxia Japanese Type
Sca4 Pure Japanese Type	Spinocerebellar Ataxia Infantile-Onset
Mitochondrial Dna Depletion Syndrome , Type 7

Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia	Adca
Pierre Marie Cerebellar Ataxia	Ataxia, Spinocerebellar
Sca	Autosomal Dominant Spinocerebellar Ataxia
Spinocerebellar Ataxias

Leber Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy	Leber Hereditary Optic Neuropathy
LHON	Leber'S Hereditary Optic Neuropathy
Leber Optic Atrophy, Susceptibility To	Leber'S Optic Atrophy
LOAM	Loas
Leber'S Disease	Leber'S Optic Neuropathy
Optic Atrophy, Hereditary, Leber	Lhon, Modifier Of
Optic Atrophy, Leber Type	Hereditary Optic Neuroretinopathy
Leber Hereditary Optic Atrophy	Loa
Optic Atrophy Leber Type	Leber Hereditary Optic Neuropathy, Modifier
Leber Hereditary Optic Neuropathy Susceptibility	Modifier Of Leber Hereditary Optic Neuropathy
Lebers Hereditary Optic Neuropathy	Leber Congenital Amaurosis

Autosomal Recessive Cerebellar Ataxia

Arca

Mitochondrial Myopathy

Mitochondrial Myopathies	Mitochondrial Cytopathy
Myopathies In Mitochondrial Disorders

Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness	Ovarian Dysgenesis With Sensorineural Deafness
Gonadal Dysgenesis, Xx Type	Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance
Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance	Xx Gonodal Dysgenesis-Deafness Syndrome
Xx Gonodal Dysgenesis-Hearing Loss Syndrome	Gonadal Dysgenesis Xx Type Deafness

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2	CMT2E
CMT2S	CMT2Y
Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Disease Type 2y
Charcot-Marie-Tooth Disease Axonal Type 2s	Charcot-Marie-Tooth Disease, Axonal, Type 2s
Charcot-Marie-Tooth Disease, Type 2e	Hereditary Motor And Sensory Neuropathy Type 2
Charcot-Marie-Tooth Neuropathy, Type 2s	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
Charcot-Marie-Tooth Disease, Axonal, Type 2y	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
Charcot-Marie-Tooth Neuropathy, Type 2y	Charcot-Marie-Tooth Disease, Type 2y
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Neuropathy Type 2e
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation	Cmt2 Due To Vcp Mutation
Charcot-Marie-Tooth Disease Type 2s	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease	Cmt2
Charcot-Marie-Tooth Neuropathy, Type 2e	Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
Hereditary Motor And Sensory Neuropathy Okinawa Type	Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
Charcot-Marie-Tooth Neuropathy Type 2y	Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
Charcot-Marie-Tooth Neuropathy Type 2s	Charcot-Marie-Tooth Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y	Charcot-Marie-Tooth Disease 2e
Charcot-Marie-Tooth Disease Axonal Type 2e	Charcot-Marie-Tooth Disease Neuronal Type 2e
Charcot-Marie-Tooth Disease 2s	Charcot-Marie-Tooth Neuropathy Axonal Type 2s
Charcot-Marie-Tooth Disease 2y	Charcot-Marie-Tooth Disease, Type 2
Hereditary Motor And Sensory-Neuropathy Type Ii

Early Myoclonic Encephalopathy

Myoclonic Epilepsy	Myoclonic Seizure
Epilepsies, Myoclonic	Epileptic Seizures - Myoclonic
Epileptic Seizures, Myoclonic	Myoclonia Epileptica
Myoclonic Seizure Disorder	Early Myoclonic Encephalopathy With Suppression-Bursts

Mitochondrial Dna Depletion Syndrome 4a

Alpers Syndrome	Alpers-Huttenlocher Syndrome
Alpers Progressive Infantile Poliodystrophy	Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis
Alpers Disease	Progressive Sclerosing Poliodystrophy
Pndc	Diffuse Cerebral Sclerosis Of Schilder
MTDPS4A	Neuronal Degeneration Of Childhood With Liver Disease, Progressive
Alper'S Syndrome	Alpers' Disease Or Gray-Matter Degeneration
Diffuse Cerebral Degeneration In Infancy	Infantile Poliodystrophy
Poliodystrophia Cerebri Progressiva	Progressive Cerebral Poliodystrophy
Alpers' Disease	Alpers Progressive Sclerosing Poliodystrophy
Progressive Neuronal Degeneration Of Childhood With Liver Disease	Ahs
Mitochondrial Dna Depletion Syndrome 4a Alpers Type	Neuronal Degeneration Of Childhood With Liver Disease Progressive

Ptosis

Blepharoptosis	Drooping Eyelid
Droopy Eyelid	Ptosis Of Eyelid
Paralysis Of Levator Palpebrae Superioris

Leigh Syndrome

Leigh Disease	Infantile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency	LS
Sne	Leigh'S Disease
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
Subacute Necrotizing Encephalomyelopathy	Necrotizing Encephalopathy Infantile Subacute Of Leigh
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency	Infantile Necrotizing Encephalomyelopathy
Juvenile Subacute Necrotizing Encephalomyelopathy	Leigh'S Necrotizing Encephalopathy
Subacute Necrotizing Encephalopathy	Juvenile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency	Leigh Syndrome Due To Mitochondrial Complex V Deficiency
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy, Subacute Necrotizing, Juvenile
Maternally Inherited Leigh Syndrome	Subacute Necrotising Encephalomyelopathy
Subacute Necrotising Encephalopathy

Peripheral Nervous System Disease

Peripheral Neuropathy	Peripheral Nerve Disease
Peripheral Nerve Disorders	Neuropathy, Peripheral
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13663	SPG7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SPG7	VGNC	VGNC:46736
Felis catus	SPG7	VGNC	VGNC:97642
Mus musculus	SPG7	MGD	MGI:2385906
Bos taurus	SPG7	VGNC	VGNC:35209
Macaca mulatta	SPG7	VGNC	VGNC:99592