ATXN7 - ataxin 7 Gene

Homo sapiens

Also known as SCA7; OPCA3; SGF73; ADCAII

Gene ID: 6314 | Gene type: protein coding

About ATXN7

Cytogenetic location: 3p14.1 Genomic coordinates (GRCh38): 3:63,863,144-64,003,462 (from NCBI)

This gene has 20 transcripts (splice variants), 213 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 8.0), testis (RPKM 6.7) and 25 other tissues.

Summary

The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the 'pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 37-306 CAG repeats (near the N-terminus), compared to 4-35 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

ATXN7 Products(5)

mRNA	Protein	Name
NM_000333.4	NP_000324.1	ataxin-7 isoform a
NM_001128149.3	NP_001121621.2	ataxin-7 isoform c
NM_001177387.1	NP_001170858.1	ataxin-7 isoform b
NM_001377405.1	NP_001364334.1	ataxin-7 isoform a
NM_001377406.1	NP_001364335.1	ataxin-7 isoform a

ATXN7 Protein Structure

SCA7

0
200
400
600
800
892 a.a.

Protein Preferred Names

Protein Names

ataxin-7

Autosomal dominant cerebellar ataxia with retinal degeneration

ATXN7 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ATXN7	O15265	NUP62	Homo sapiens	P37198	Pull Down	21078624
Intra	ATXN7	O15265	NUP62	Homo sapiens	P37198	Y2H	21078624
Intra	ATXN7	O15265	TRRAP	Homo sapiens	Q9Y4A5	Pull Down	15115762
Intra	ATXN7	O15265	TRRAP	Homo sapiens	Q9Y4A5	Anti Bait CoIP	15115762
Intra	ATXN7	O15265	TRRAP	Homo sapiens	Q9Y4A5	TAP	24981860
Intra	ATXN7	O15265	SORBS1	Homo sapiens	Q9BX66	ITC	23892081
Intra	ATXN7	O15265	TAF10	Homo sapiens	Q12962	Pull Down	15115762
Intra	ATXN7	O15265	TAF10	Homo sapiens	Q12962	TAP	24981860
Intra	ATXN7	O15265	TAF10	Homo sapiens	Q12962	Anti Bait CoIP	15115762
Intra	ATXN7	O15265	TAF10	Homo sapiens	Q12962	GMS	15115762
Intra	ATXN7	O15265	CEP72	Homo sapiens	Q9P209	Pull Down	21078624
Intra	ATXN7	O15265	NOC2L	Homo sapiens	Q9Y3T9	Pull Down	21078624
Intra	ATXN7	O15265	NOC2L	Homo sapiens	Q9Y3T9	Y2H	21078624
Intra	ATXN7	O15265	AGRN	Homo sapiens	O00468	Y2H	21078624
Intra	ATXN7	O15265	AGRN	Homo sapiens	O00468	Pull Down	21078624
Intra	ATXN7	O15265	MEGF6	Homo sapiens	O75095	Pull Down	21078624
Intra	ATXN7	O15265	MEGF8	Homo sapiens	Q7Z7M0	Y2H	21078624
Intra	ATXN7	O15265	LTBP4	Homo sapiens	Q8N2S1	Y2H	21078624
Cross	ATXN7	O15265	His2B	Drosophila melanogaster	P02283	Pull Down	20634802

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Spinocerebellar Ataxia 7

Spinocerebellar Ataxia Type 7	SCA7
Opca3	Opca Iii
Olivopontocerebellar Atrophy Iii	Opca With Retinal Degeneration
Opca With Macular Degeneration And External Ophthalmoplegia	Adca, Type Ii
Autosomal Dominant Cerebellar Ataxia Type 2	Olivopontocerebellar Atrophy 3
Autosomal Dominant Cerebellar Ataxia, Type Ii	Autosomal Dominant Cerebellar Ataxia Type Ii
Adca2	Adcaii
Ataxia With Pigmentary Retinopathy	Cerebellar Syndrome-Pigmentary Maculopathy Syndrome
Olivopontocerebellar Atrophy With Retinal Degeneration	Spinocerebellar Ataxia-7
Ataxia, Spinocerebellar, Type 7

Retinal Degeneration

Degeneration Of Retina

Autosomal Dominant Cerebellar Ataxia

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

Hereditary Ataxia

Sca	Spinocerebellar Ataxia
Ataxias Hereditary	Ataxias, Hereditary

Machado-Joseph Disease

SCA3	MJD
Spinocerebellar Ataxia 3	Azorean Disease
Spinocerebellar Ataxia Type 3	Spinocerebellar Atrophy
Azorean Neurologic Disease	Spinopontine Atrophy
Nigrospinodentatal Degeneration	Spinocerebellar Atrophy Iii
Spinocerebellar Atrophy Type 3	Azorean Ataxia
Azorean Disease Of The Nervous System	Machado Disease
Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia	Disease, Machado-Joseph
Ataxia, Spinocerebellar

Spinocerebellar Ataxia 12

Spinocerebellar Ataxia Type 12	SCA12
Ataxia, Spinocerebellar, Type 12

Olivopontocerebellar Atrophy

Thomas Syndrome	Olivopontocerebellar Atrophies
Dejerine-Thomas Syndrome	Thomas' Syndrome
Wadia-Swami Syndrome	Opca
Potter Sequence-Cleft Lip/Palate-Cardiopathy Syndrome	Spinocerebellar Ataxia Type 2

Dentatorubral-Pallidoluysian Atrophy

DRPLA	Naito-Oyanagi Disease
Haw River Syndrome	Myoclonic Epilepsy With Choreoathetosis
Nod	Ataxia, Chorea, Seizures, And Dementia
Dentatorubropallidoluysian Atrophy	Hrs
Naito Oyanagi Disease	Dentatorubral Pallidoluysian Atrophy
Dentatorubro-Pallidoluysian Atrophy	Myoclonic Epilepsies, Progressive
Atrophy, Pallidoluysian, Dentatorubral

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

Spinocerebellar Ataxia 17

Spinocerebellar Ataxia Type 17	SCA17
Huntington Disease-Like 4	Hdl4
Olivopontocerebellar Atrophy V	Cerebelloparenchymal Disorder Ii
Opca5	Cpd2
Sca 17	Ataxia, Spinocerebellar, Type 17

Spinocerebellar Ataxia 2

Spinocerebellar Ataxia Type 2	SCA2
Amyotrophic Lateral Sclerosis 13	Spinocerebellar Degeneration With Slow Eye Movements
SDSEM	Spinocerebellar Atrophy Ii
Olivopontocerebellar Atrophy Ii	Opca2
Cerebellar Degeneration With Slow Eye Movements	Wadia-Swami Syndrome
Amyotrophic Lateral Sclerosis Type 13	ALS13
Olivopontocerebellar Atrophy Holguin Type	Spinocerebellar Ataxia Cuban Type
Olivopontocerebellar Atrophy, Holguin Type	Spinocerebellar Ataxia, Cuban Type
Amyotrophic Lateral Sclerosis, Susceptibility To, 13	Olivopontocerebellar Atrophy 2
Sca 2	Spinocerebellar Ataxia With Slow Eye Movements
Spinocerebellar Atrophy 2	Wadia Swami Syndrome
Opca Ii	Spinocerebellar Ataxia-2
Ataxia, Spinocerebellar, Type 2

Spinal And Bulbar Muscular Atrophy, X-Linked 1

Kennedy Disease	Sbma
Spinal And Bulbar Muscular Atrophy	Kennedy'S Disease
X-Linked Spinal And Bulbar Muscular Atrophy	SMAX1
Kd	Kennedy Spinal And Bulbar Muscular Atrophy
Spinobulbar Muscular Atrophy	Bulbospinal Muscular Atrophy, X-Linked
Bulbospinal Neuronopathy, X-Linked Recessive	Xbsn
Spinal And Bulbar Muscular Atrophy Of Kennedy	Bulbospinal Muscular Atrophy
X-Linked Bulbospinal Amyotrophy	Bulbo-Spinal Atrophy, X-Linked
Spinal Bulbar Muscular Atrophy	X-Linked Bulbo-Spinal Atrophy
X-Linked Spinal Bulbar Muscular Atrophy	X-Linked Bsma
X-Linked Bulbospinal Muscular Atrophy	Spinal And Bulbar Muscular Atrophy X-Linked 1
Bulbospinal Muscular Atrophy X-Linked	Bulbospinal Neuronopathy X-Linked Recessive
Kennedy Disease)	Kennedy Syndrome
Atrophy, Muscular, Spinal And Bulbar, Kennedy Type	Atrophy, Muscular, Spinobulbar
Bulbospinal Neuronopathy

Tactile Agnosia

Spinocerebellar Ataxia 4

Spinocerebellar Ataxia Type 4	SCA4
Spinocerebellar Ataxia, Autosomal Dominant, With Sensory Axonal Neuropathy	Spinocerebellar Ataxia Autosomal Dominant With Sensory Axonal Neuropathy
Spinocerebellar Ataxia-4	Spinocerebellar Ataxias

Cerebellar Disease

Cerebellar Diseases	Cerebellar Dysfunction
Cerebellar Abnormality	Cerebellar Disorders

Spinocerebellar Ataxia 6

Spinocerebellar Ataxia Type 6	SCA6
Type 6 Spinocerebellar Ataxia	Spinocerebellar Ataxia-6
Ataxia, Spinocerebellar, Type 6

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

Intestinal Pseudo-Obstruction

Chronic Intestinal Pseudoobstruction	Chronic Intestinal Pseudo-Obstruction
Cipo	Neuronal Intestinal Dysplasia
Hollow Visceral Myopathy	Familial Visceral Neuropathy
Paralytic Ileus	Intestinal Pseudoobstruction
Chronic Idiopathic Intestinal Pseudo-Obstruction	Ciip
Congenital Short Bowel Syndrome	Enteric Neuropathy
Familial Visceral Myopathy	Ipo
Pseudo-Obstruction Of Intestine	Pseudointestinal Obstruction Syndrome
Pseudoobstructive Syndrome	Congenital Idiopathic Intestinal Pseudoobstruction
Visceral Myopathy, Familial

Huntington Disease-Like 2

HDL2	Huntington'S Disease-Like 2
Huntington Disease-Like, Type 2

Cerebellar Ataxia Type 42

Sca42

Cerebellar Ataxia Type 48

Sca48

Spinocerebellar Ataxia 1

Spinocerebellar Ataxia Type 1	SCA1
Olivopontocerebellar Atrophy I	Opca1
Opca4	Menzel Type Opca
Schut-Haymaker Type Opca	Spinocerebellar Atrophy I
Opca I	Olivopontocerebellar Atrophy Iv
Opca Iv	Cerebelloparenchymal Disorder I
Cpd1	Olivopontocerebellar Atrophy 1
Cerebelloparenchymal Disorder 1	Olivopontocerebellar Atrophy 4
Spinocerebellar Atrophy 1	Type 1 Spinocerebellar Ataxia
Spinocerebellar Ataxia-1	Ataxia, Spinocerebellar, Type 1

Ocular Motility Disease

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

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1

Cadasil	Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy
Casil	Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy
Familial Vascular Leukoencephalopathy	CADASIL1
Cadasil 1	Hereditary Multi-Infarct Dementia
Cadasil Syndrome	Dementia, Hereditary Multiinfarct Type
Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy 1	Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 1
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts Leukoencephalopathy	Dementia, Hereditary Multi-Infarct Type
Hereditary Dementia, Multi-Infarct Type	Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 1	Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant
Dementia Hereditary Multiinfarct Type	Dementia Hereditary Multi-Infarct Type
Arteriopathy, Cerebral, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy

Spinocerebellar Ataxia, Autosomal Recessive 4

SCAR4	Scasi
Spinocerebellar Ataxia With Saccadic Intrusions	Autosomal Recessive Cerebellar Ataxia-Saccadic Intrusion Syndrome
Spinocerebellar Ataxia 24	Autosomal Recessive Spinocerebellar Ataxia 4
Sca24	Spinocerebellar Ataxia 24, Formerly
Sca24, Formerly	Spinocerebellar Ataxia Autosomal Recessive 4
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome

Restless Legs Syndrome

Wed	Willis-Ekbom Disease
Restless Leg Syndrome	Ekbom Syndrome
Wittmaack-Ekbom Syndrome	Willis Ekbom Disease
Ekbom'S Syndrome	Rls
Restless Legs	Restless Legs Syndrome, Susceptibility To

X-Linked Hereditary Ataxia

Episodic Ataxia, Type 2

Episodic Ataxia Type 2	EA2
Apca	Capa
Cerebellopathy, Hereditary Paroxysmal	Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia
Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive	Episodic Ataxia With Nystagmus
Ataxia, Episodic, With Nystagmus	Episodic Ataxia, Nystagmus-Associated
Ataxia, Familial Paroxysmal	Acetazolamide-Responsive Episodic Ataxia Syndrome
Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia	Ataxia, Familial, Paroxysmal
Nystagmus-Associated Episodic Ataxia	Familial Paroxysmal Ataxia
Episodic Ataxia 2	Ea-2
Episodic Ataxia Nystagmus-Associated	Hereditary Paroxysmal Cerebellopathy
Ataxia, Episodic, Type 2

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

Huntington Disease

Huntington'S Disease	Huntington Chorea
Huntington'S Chorea	HD
Huntington Chronic Progressive Hereditary Chorea	Juvenile Huntington Disease
Chronic Progressive Chorea	Chronic Progressive Hereditary Chorea
Hc - [Huntington Chorea]	Hereditary Chorea
Progressive Hereditary Chorea

Episodic Ataxia, Type 6

Episodic Ataxia Type 6	EA6
Episodic Ataxia 6	Ea-6
Ataxia, Episodic, Type 6

Brugada Syndrome 9

BRGDA9

Brugada Syndrome, Type 9

Boucher-Neuhauser Syndrome

Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome	BNHS
Spinocerebellar Ataxia, Hypogonadotropic Hypogonadism, And Chorioretinal Dystrophy	Boucher-Neuhäuser Syndrome
Chorioretinal Dystrophy, Spinocerebellar Ataxia, And Hypogonadotropic Hypogonadism	Ataxia - Hypogonadism - Choroidal Dystrophy
Chorioretinal Dystrophy, Spinocerebellar Ataxia And Hypogonadotropic Hypogonadism	Bns
Cerebellar Ataxia With Hypogonadism And Choroidal Dystrophy Syndrome	Boucher Neuhauser Syndrome

Spinocerebellar Ataxia 8

Spinocerebellar Ataxia Type 8	SCA8
Ataxia, Spinocerebellar, Type 8

Fragile X-Associated Tremor/Ataxia Syndrome

Fxtas Syndrome	Fragile X Tremor/Ataxia Syndrome
Fxtas

Spinocerebellar Ataxia 40

Spinocerebellar Ataxia Type 40	SCA40
Ataxia, Spinocerebellar, Type 40

Episodic Ataxia

Isaacs Syndrome	Neuromyotonia
Isaacs' Syndrome	Acquired Neuromyotonia
Continuous Muscle Fiber Activity Syndrome	Quantal Squander Syndrome
Isaacs-Mertens Syndrome	Ea Syndrome
Episodic Ataxia Syndrome	Isaac Syndrome
Isaac'S-Merten'S Syndrome	Isaac-Mertens Syndrome
Peripheral Nerve Hyperexcitability	Ea
Peripheral Nerve Hyperexcitability Syndrome	Ataxia, Episodic
Isaacs Neuromyotonia	Continuous Muscle Fibre Activity

Spinocerebellar Ataxia 14

Spinocerebellar Ataxia Type 14	SCA14
Ataxia, Spinocerebellar, Type 14

Autosomal Recessive Cerebellar Ataxia

Arca

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type

MRXSBL	Mental Retardation, X-Linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance
X-Linked Mental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance	Mental Retardation, X-Linked 60, Formerly
Mrx60, Formerly	Intellectual Developmental Disorder, X-Linked Syndromic, Billuart Type
Mrx60	Mental Retardation, X-Linked, With Cerebellar Hypoplasia, Distinctive Facial Appearance

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

Choreatic Disease

Chorea

Hereditary Chorea

Spinocerebellar Ataxia 10

Spinocerebellar Ataxia Type 10	SCA10
Spinocerebellar Ataxia-10	Ataxia, Spinocerebellar, Type 10

Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia

Aoa1	Ataxia-Telangiectasia-Like Disorder
EAOH	Eoca-Ha
Ataxia With Oculomotor Apraxia Type 1	Ataxia-Oculomotor Apraxia 1
Ataxia-Oculomotor Apraxia Syndrome	AOA
Ataxia-Telangiectasia-Like Syndrome	Ataxia-Oculomotor Apraxia Type 1
Ataxia With Oculomotor Apraxia	Cerebellar Ataxia, Early-Onset, With Hypoalbuminemia
Early-Onset Ataxia With Oculomotor Apraxia And Hypoalbuminemia	Early-Onset Cerebellar Ataxia With Hypoalbuminemia
Adult Onset Ataxia With Oculomotor Apraxia	Early-Onset Ataxia With Ocular Motor Apraxia And Hypoalbuminemia
Scan2	Scar1
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1
Atld	Ataxia Early-Onset With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar Ataxia Early-Onset With Hypoalbuminemia	Ataxia-Oculomotor Apraxia
Spinocerebellar Ataxia, Autosomal Recessive 1

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

Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2

Aoa2	Ataxia With Oculomotor Apraxia Type 2
Scar1	SCAN2
Ataxia-Oculomotor Apraxia 2	Ataxia-Ocular Apraxia 2
Ataxia-Oculomotor Apraxia Type 2	Scan 2
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Spinocerebellar Ataxia, Autosomal Recessive 1, Formerly
Scar1, Formerly	Autosomal Recessive Spinocerebellar Ataxia-1
Spinocerebellar Ataxia, Autosomal Recessive, 1	Ataxia-Ocular Apraxia-2
Spinocerebellar Ataxia, Autosomal Recessive 1

Familial Adult Myoclonic Epilepsy

Benign Adult Familial Myoclonus Epilepsy	Bafme
Benign Adult Familial Myoclonic Epilepsy	Fame
Familial Cortical Myoclonic Tremor And Epilepsy	Fcmte
Adcme	Autosomal Dominant Cortical Myoclonus And Epilepsy
Fam	Epilepsy, Myoclonic, Familial Adult
Epilepsy, Myoclonic, Benign Adult Familial, Type 2

Myotonic Dystrophy 1

Myotonic Dystrophy	Dystrophia Myotonica
Steinert Disease	Myotonic Dystrophy Type 1
Myotonia Atrophica	DM1
Congenital Myotonic Dystrophy	Myotonia Dystrophica
Steinert Myotonic Dystrophy	Dystrophia Myotonica 1
Dm	Steinert'S Disease
Steinert Myotonic Dystrophy Syndrome	Myotonic Dystrophy Of Steinert
Dystrophia Myotonica Type 1	Myotonic Dystrophy Congenital
Dystrophy, Myotonic, Type 1	Dm - [Dystrophia Myotonica]
Myotonic Muscular Dystrophy

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

Spinal Muscular Atrophy

Sma	5q Sma
Proximal Sma	Sma-Associated Sma
Spinal Amyotrophies	Spinal Amyotrophy
Spinal Muscle Degeneration	Spinal Muscle Wasting
Muscular Atrophy Spinal	Atrophy, Muscular, Spinal
Hereditary Motor Neuronopathy	Progressive Muscular Atrophy
Sma - [Spinal Muscular Atrophy]

Eye Degenerative Disease

Movement Disease

Movement Disorders

Movement Disorder

Spastic Ataxia

Spax	Ataxia, Spastic

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

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

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01260	ATXN7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS01261	ATXN7L1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS01262	ATXN7L3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ATXN7	RGD	RGD:1562692
Mus musculus	ATXN7	MGD	MGI:2179277
Felis catus	ATXN7	VGNC	VGNC:69357
Bos taurus	ATXN7	VGNC	VGNC:26342
Canis familiaris	ATXN7	VGNC	VGNC:38303
Macaca mulatta	ATXN7	VGNC	VGNC:110382