SPAST - spastin Gene

Homo sapiens

Also known as FSP2; SPG4; ADPSP

Gene ID: 6683 | Gene type: protein coding

About SPAST

Cytogenetic location: 2p22.3 Genomic coordinates (GRCh38): 2:32,063,556-32,157,637 (from NCBI)

This gene has 20 transcripts (splice variants), 236 orthologues, 9 paralogues and is associated with 4 phenotypes. Ubiquitous expression in brain (RPKM 7.7), testis (RPKM 5.2) and 25 other tissues.

Summary

This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein 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. The use of alternative translational initiation sites in this gene results in a single transcript variant that can produce isoforms that differ in the length of their N-terminus and which thereby differ in the efficiency of their export from the nucleus to the cytoplasm. In addition, alternative splicing results in multiple transcript variants that encode isoforms that differ in Other protein regions as well. One isoform of this gene has been shown to be a microtubule-severing Enzyme that regulates microtubule abundance, mobility, and plus-end distribution. Mutations in this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. [provided by RefSeq, May 2018]

SPAST Products(5)

mRNA	Protein	Name
NM_001363823.2	NP_001350752.1	spastin isoform 3
NM_001363875.2	NP_001350804.1	spastin isoform 4
NM_001377959.1	NP_001364888.1	spastin isoform 5
NM_014946.4	NP_055761.2	spastin isoform 1
NM_199436.2	NP_955468.1	spastin isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables alpha-tubulin binding	IPI IPI: Inferred from physical interaction	17389232	GOA
enables beta-tubulin binding	IDA IDA: Inferred from direct assay	26875866	GOA
enables beta-tubulin binding	IPI IPI: Inferred from physical interaction	17389232	GOA
enables microtubule binding	IDA IDA: Inferred from direct assay	15716377	GOA
enables microtubule severing ATPase activity	IDA IDA: Inferred from direct assay	15716377	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16815977	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cytokinetic process	IMP IMP: Inferred from mutant phenotype	19000169	GOA
involved in endoplasmic reticulum to Golgi vesicle-mediated transport	IMP IMP: Inferred from mutant phenotype	19000169	GOA
involved in exit from mitosis	IMP IMP: Inferred from mutant phenotype	26040712	GOA
involved in membrane fission	IMP IMP: Inferred from mutant phenotype	21310966	GOA
involved in microtubule bundle formation	IDA IDA: Inferred from direct assay	16219033	GOA
involved in microtubule severing	IDA IDA: Inferred from direct assay	15716377	GOA
involved in microtubule severing	IMP IMP: Inferred from mutant phenotype	21310966	GOA
involved in mitotic cytokinesis	IMP IMP: Inferred from mutant phenotype	21310966	GOA
involved in mitotic spindle disassembly	IMP IMP: Inferred from mutant phenotype	26040712	GOA
involved in nuclear membrane reassembly	IMP IMP: Inferred from mutant phenotype	26040712	GOA
involved in positive regulation of cytokinesis	IMP IMP: Inferred from mutant phenotype	18997780	GOA
involved in protein hexamerization	IDA IDA: Inferred from direct assay	17389232	GOA
involved in protein homooligomerization	IDA IDA: Inferred from direct assay	17389232	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in axon	IDA IDA: Inferred from direct assay	15269182	GOA
located in centrosome	IDA IDA: Inferred from direct assay	25390646	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	16026783	GOA
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	21545838	GOA
colocalizes with endoplasmic reticulum	IDA IDA: Inferred from direct assay	19000169	GOA
located in endoplasmic reticulum tubular network	IDA IDA: Inferred from direct assay	23969831	GOA
colocalizes with endosome	IDA IDA: Inferred from direct assay	19000169	GOA
colocalizes with microtubule cytoskeleton	IDA IDA: Inferred from direct assay	15716377	GOA
colocalizes with midbody	IDA IDA: Inferred from direct assay	19000169	GOA
located in midbody	IDA IDA: Inferred from direct assay	15269182	GOA
located in midbody	IMP IMP: Inferred from mutant phenotype	18997780	GOA
located in nuclear membrane	IDA IDA: Inferred from direct assay	26040712	GOA
located in nuclear membrane	IMP IMP: Inferred from mutant phenotype	26040712	GOA
located in nucleus	IDA IDA: Inferred from direct assay	15147984	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	15147984	GOA
located in spindle pole	IDA IDA: Inferred from direct assay	15269182	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

SPAST Protein Structure

MIT

AAA

0
100
200
300
400
500
616 a.a.

Protein Preferred Names

Protein Names

spastin

spastic paraplegia 4 (autosomal dominant

SPAST Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SPAST	Q9UBP0	ATL1	Homo sapiens	Q8WXF7-1	Pull Down	16815977
Intra	SPAST	Q9UBP0	ATL1	Homo sapiens	Q8WXF7-1	Anti Tag CoIP	16815977
Intra	SPAST	Q9UBP0	ATL1	Homo sapiens	Q8WXF7-1	Y2H	16815977
Intra	SPAST	Q9UBP0	FBXL17	Homo sapiens	Q9UF56	Anti Tag CoIP	35869491
Intra	SPAST	Q9UBP0	FBXL17	Homo sapiens	Q9UF56	Anti Bait CoIP	35869491

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Spastic Paraplegia 4, Autosomal Dominant

SPG4	Hereditary Spastic Paraplegia 4
Fsp2	Autosomal Dominant Spastic Paraplegia Type 4
Familial Spastic Paraplegia, Autosomal Dominant, 2	Autosomal Dominant Spastic Paraplegia 4
Familial Spastic Paraplegia Autosomal Dominant 2	Paraplegia, Spastic, Autosomal Dominant, Type 4

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 Paraparesis

Spasticity

Spastic Diplegia

Diplegic Infantile Cerebral Palsy	Little'S Disease
Cerebral Palsy	Cerebral Spastic Infantile Paralysis
Infantile Diplegic Cerebral Palsy	Infantile Spastic Cerebral Palsy
Littles Disease	Spastic Cerebral Palsy

Cerebral Palsy

Infantile Cerebral Palsy	Mixed Cerebral Palsy
Palsy Cerebral	Palsy, Cerebral
Cerebral Palsy, Mixed

Spastic Paraplegia 4

Spg4	Spastic Paraplegia Type 4
Spast-Hsp	Autosomal Dominant Spastic Paraplegia 4
Fsp2	Familial Spastic Paraplegia Autosomal Dominant 2
Spastic Paraplegia 4, Autosomal Dominant

Paraplegia

Paraplegia, Lower

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

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

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

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 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

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

Dementia

Dementias	Presenile Dementia
Alzheimer Type Dementia	Alzheimer Sclerosis
Alzheimer Disease Dementia	Alzheimer Dementia
Primary Degenerative Alzheimer Type Dementia	End Stage Alzheimer'S Dementia
Alzheimer'S Type Atypical Dementia	Alzheimer Type Presenile Dementia
Early Onset Alzheimer Dementia	Dementia In Alzheimer Disease Type 2
Dementia In Alzheimer Disease With Early Onset	Early Onset Alzheimer Type Dementia, Uncomplicated
Primary Degenerative Alzheimer Type Dementia, Early Onset	Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated
Alzheimer Disease Dementia With Early Onset	Presenile Sclerosis
Presenile Brain Sclerosis	Presenile Alzheimer Brain Sclerosis
Late Onset Alzheimer Dementia	Dementia In Alzheimer Disease Type 1
Dementia In Alzheimer Disease With Late Onset	Primary Degenerative Alzheimer Type Dementia, Late Onset
Sdat - [Senile Dementia, Alzheimer Type]	Alzheimer Disease Dementia With Late Onset
Late Onset Alzheimer Brain Sclerosis	Senile Alzheimer Brain Disease
Senile Alzheimer Brain Sclerosis	Senile Primary Degenerative Alzheimer Type Dementia
Senile Dementia Of The Alzheimer Type	Arteriosclerotic Dementia
Strategic-Infarct Dementia	Post Stroke Dementia
Vascular Cognitive Impairment	Vascular Dementia
Dementia Of The Lewy Body Type	Dementia With Lewy Bodies
Sdlt - [Senile Dementia Of The Lewy Body Type]	Senile Dementia Of The Lewy Body Type
Alcohol-Related Dementia	Alcoholic Dementia Nos
Alcohol-Induced Dementia	Alcoholic Brain Syndrome
Chronic Alcoholic Brain Syndrome	Alcohol Dementia
Late Onset Alcoholic Psychosis	Residual And Late-Onset Alcohol-Induced Psychotic Disorder
Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder	Late-Onset Psychoactive Substance-Induced Psychotic Disorder
Inhalant Dementia	Volatile Solvents Dementia
Dementia In Paralysis Agitans	Pdd - [Parkinson Disease Dementia]
Dementia Syndrome Of Parkinson Disease	Dementia In Parkinson Disease
Parkinson Related Dementia	Dementia In Huntington Chorea
Hiv - [Human Immunodeficiency Virus] Dementia	Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex
Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex	Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex
Aids Related Dementia	Dementia Due To Niacin Deficiency

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

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 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

Spastic Paraplegia 14, Autosomal Recessive

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

Hereditary Spastic Paraplegia 30

Autosomal Spastic Paraplegia Type 30	Spg30
Autosomal Recessive Spastic Paraplegia 30

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

Spastic Paraplegia 41, Autosomal Dominant

SPG41	Hereditary Spastic Paraplegia 41
Autosomal Dominant Spastic Paraplegia Type 41	Autosomal Dominant Spastic Paraplegia 41

Spastic Paraplegia 31, Autosomal Dominant

SPG31	Hereditary Spastic Paraplegia 31
Spastic Paraplegia 31	Autosomal Dominant Spastic Paraplegia 31
Autosomal Dominant Spastic Paraplegia Type 31	Spastic Paraplegia Type 31
Paraplegia, Spastic, Autosomal Dominant, Type 31

Spastic Paraplegia 80, Autosomal Dominant

SPG80	Hereditary Spastic Paraplegia 80
Spastic Paraplegia 80 Autosomal Dominant	Doid:0112341

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 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

Spastic Paraplegia 34, X-Linked

SPG34	Hereditary Spastic Paraplegia 34
X-Linked Spastic Paraplegia Type 34	X-Linked Spastic Paraplegia 34

Spastic Paraplegia 48, Autosomal Recessive

SPG48	Hereditary Spastic Paraplegia 48
Autosomal Recessive Spastic Paraplegia Type 48	Autosomal Recessive Spastic Paraplegia 48
Paraplegia, Spastic, Type 48, Autosomal Recessive

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 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

Spastic Paraplegia 73, Autosomal Dominant

SPG73	Hereditary Spastic Paraplegia 73
Autosomal Dominant Spastic Paraplegia Type 73	Autosomal Dominant Spastic Paraplegia 73
Paraplegia, Spastic, Autosomal Dominant, Type 73

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

Spastic Paraplegia 12, Autosomal Dominant

SPG12	Hereditary Spastic Paraplegia 12
Autosomal Dominant Spastic Paraplegia Type 12	Autosomal Dominant Spastic Paraplegia 12
Spastic Paraplegia 12	Spastic Paraplegia-12
Paraplegia, Spastic, Autosomal Dominant, Type 12

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

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 26, Autosomal Recessive

SPG26	Hereditary Spastic Paraplegia 26
Autosomal Recessive Spastic Paraplegia Type 26	Gm2 Synthase Deficiency
Spastic Paraplegia 26	Autosomal Recessive Spastic Paraplegia 26
Paraplegia, Spastic, Autosomal Recessive, Type 26

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 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

Spastic Paraplegia 52, Autosomal Recessive

SPG52	Hereditary Spastic Paraplegia 52
Cpsq6	Cerebral Palsy, Spastic Quadriplegic, 6, Formerly
Cpsq6, Formerly	Autosomal Recessive Spastic Paraplegia 52
Spastic Quadriplegic Cerebral Palsy 6	Cerebral Palsy, Spastic Quadriplegic 6

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

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1

PEOA1	Autosomal Dominant Progressive External Ophthalmoplegia 1
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 1	Chronic Progressive External Ophthalmoplegia
Progressive External Ophthalmoplegia, Autosomal Dominant 1	Cpeo
Graefe Disease	Mitochondrial Ocular Myopathy
Ocular Myopathy Of Von Graefe-Fuchs	Progressive External Ophthalmoplegia Autosomal Dominant
Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 1	Kearns-Sayre Syndrome

Spastic Paraplegia 19, Autosomal Dominant

SPG19	Hereditary Spastic Paraplegia 19
Autosomal Dominant Spastic Paraplegia Type 19	Autosomal Dominant Spastic Paraplegia 19
Spastic Paraplegia 19	Spastic Paraplegia-19

Spastic Paraplegia 17, Autosomal Dominant

Silver Syndrome	SPG17
Silver Spastic Paraplegia Syndrome	Spastic Paraplegia With Amyotrophy Of Hands And Feet
Hereditary Spastic Paraplegia 17	Autosomal Dominant Spastic Paraplegia Type 17
Spastic Paraplegia 17	Spastic Paraplegia-Amyotrophy Of Hands And Feet
Autosomal Dominant Spastic Paraplegia 17	Dhmn5b
Distal Hereditary Motor Neuropathy Type 5b	Paraplegia, Spastic, Autosomal Dominant, Type 17
Russell-Silver Syndrome	Neuronopathy, Distal Hereditary Motor, Type Vb

Spastic Paraplegia 53, Autosomal Recessive

SPG53	Hereditary Spastic Paraplegia 53
Autosomal Recessive Spastic Paraplegia Type 53	Autosomal Recessive Spastic Paraplegia 53
Paraplegia, Spastic, Type 53, Autosomal Recessive

Spastic Paraplegia 57, Autosomal Recessive

SPG57	Hereditary Spastic Paraplegia 57
Autosomal Recessive Spastic Paraplegia Type 57	Autosomal Recessive Spastic Paraplegia 57
Spastic Paraplegia Due To Partial Tfg Deficiency	Paraplegia, Spastic, Type 57, Autosomal Recessive

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

Hereditary Spastic Paraplegia 49

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

Spastic Paraplegia 75, Autosomal Recessive

SPG75	Hereditary Spastic Paraplegia 75
Autosomal Recessive Spastic Paraplegia Type 75	Autosomal Recessive Spastic Paraplegia 75

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 62, Autosomal Recessive

SPG62	Hereditary Spastic Paraplegia 62
Autosomal Recessive Spastic Paraplegia Type 62	Spastic Paraplegia 62
Autosomal Recessive Spastic Paraplegia 62	Paraplegia, Spastic, Type 62

Neuropathy, Hereditary Sensory, Type Id

HSN1D	Hereditary Sensory Neuropathy Type 1d
Neuropathy, Hereditary Sensory, Type 1d	Neuropathy, Hereditary Sensory, 1d
Hereditary Sensory Neuropathy Type Id	Neuropathy, Sensory, Hereditary, Type Id

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 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

Friedreich Ataxia

Friedreich Ataxia 1	FRDA
Friedreich Ataxia With Retained Reflexes	Frda1
Fa	Friedreich'S Ataxia
Hereditary Spinal Ataxia	Fa1
Friedreich'S Tabes	Hereditary Spinal Sclerosis
Spinocerebellar Ataxia, Friedreich	Friedreich Spinocerebellar Ataxia
Friedrich'S Ataxia

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

Spastic Cerebral Palsy

Palsy, Cerebral, Spastic	Infantile Hemiplegia Nos
Postnatal Infantile Hemiplegia Nos	Congenital Spastic Hemiplegia
Spastic Hemiplegic Cerebral Palsy	Congenital Hemiplegia Nos
Hemiplegic Cerebral Palsy	Hemiplegic Infantile Cerebral Palsy

Spastic Paraplegia 9a, Autosomal Dominant

Hereditary Spastic Paraplegia 9a	SPG9A
Cataracts With Motor Neuronopathy, Short Stature, And Skeletal Abnormalities	Ad-Spg9a
Spastic Paraparesis-Amyopathy-Cataracts-Gastroesophageal Reflux Syndrome	Spastic Paraparesis With Amyotrophy, Cataracts, And Gastroesophageal Reflux
Autosomal Dominant Complex Spastic Paraplegia Type 9a	Autosomal Dominant Spastic Paraplegia 9a
Cataracts Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome	Cataracts With Motor Neuronopathy, Short Stature And Skeletal Abnormalities
Spastic Paraparesis With Amyopathy, Cataracts And Gastroesophageal Reflux	Autosomal Dominant Spastic Paraplegia Type 9a
Cataracts-Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome	Spastic Paraparesis With Amyopathy, Cataracts, And Gastroesophageal Reflux
Spastic Paraplegia 9, Autosomal Dominant

Spastic Paraplegia 50, Autosomal Recessive

Hereditary Spastic Paraplegia 50	SPG50
Ap-4 Deficiency Syndrome	Ap-4-Associated Hereditary Spastic Paraplegia
Adaptor Protein Complex 4 Deficiency	Cerebral Palsy, Spastic Quadriplegic, 3, Formerly
Cpsq3, Formerly	Autosomal Recessive Spastic Paraplegia 50
Cpsq3	Spastic Quadriplegic Cerebral Palsy 3
Ap-4 Deficiency	Ap-4-Associated Hsp
Paraplegia, Spastic, Autosomal Recessive, Type 50	Spastic Paraplegia-50, Autosomal Recessive

Pontocerebellar Hypoplasia, Type 2e

Pontocerebellar Hypoplasia Type 2	Pontocerebellar Hypoplasia Type 2e
Pch2	PCH2E
Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy	Pontocerebellar Hypoplasia 2e
Pcca2	Progressive Cerebello-Cerebral Atrophy Type 2
Doid:0112328	Hypoplasia, Pontocerebellar, Type 2e
Pontocerebellar Hypoplasia, Type 2d	Pontocerebellar Hypoplasia Type 2a

Neurogenic Bowel

Motor Neuron Disease

Anterior Horn Cell Disease	Motor Neuron Diseases
Mnd - [Motor Neurone Disease]	Lou Gehrig Disease
Creeping Palsy	Creeping Paralysis
Bulbar Motor Neuron Disease	Bulbar Syndrome
Anterior Horn Cell Disorder	Hereditary Motor Neuron Disease

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

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

Spastic Ataxia

Spax	Ataxia, Spastic

Peroxisomal Biogenesis Disorder

Zellweger Spectrum Disorders	Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum
Disorders Of Peroxisome Biogenesis	Zellweger Spectrum
Zellweger Syndrome Spectrum	Peroxisomal Biogenesis Disorders
Pbd, Zss	Pbd-Zsd
Pbd-Zss	Pbd-Zellweger Spectrum Disorder
Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum	Peroxisome Biogenesis Disorder
Peroxisome Biogenesis Disorder Spectrum	Peroxisome Biogenesis Disorders
Zellweger Spectrum Disorder	Hyperpipecolic Acidaemia

Cerebellar Disease

Cerebellar Diseases	Cerebellar Dysfunction
Cerebellar Abnormality	Cerebellar Disorders

Zellweger Syndrome

Cerebrohepatorenal Syndrome	Zellweger Leukodystrophy
Zs	Congenital Iron Overload
Chr	Zws
Severe Pbd-Zsd	Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Autosomal Dominant Cerebellar Ataxia

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

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

Peripheral Nervous System Disease

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

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13634	SPAST Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SPAST	MGD	MGI:1858896
Felis catus	SPAST	VGNC	VGNC:65603
Bos taurus	SPAST	VGNC	VGNC:35174
Macaca mulatta	SPAST	VGNC	VGNC:77857
Rattus norvegicus	SPAST	RGD	RGD:1308494
Canis familiaris	SPAST	VGNC	VGNC:46703
Others	SPAST	NCBI