SACS - sacsin molecular chaperone Gene

Also Known as SPAX6; ARSACS; DNAJC29; PPP1R138

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 26278

About SACS

Cytogenetic location: 13q12.12 Genomic coordinates (GRCh38): 13:23,328,830-23,433,702 (from NCBI)

This gene has 23 transcripts (splice variants), 216 orthologues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 7.1), appendix (RPKM 2.8) and 23 other tissues.

Summary

This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that "the large multi-domain sacsin protein is able to recruit HSP70 chaperone action and has the potential to regulate the effects of Other ataxia proteins" (Parfitt et al., PubMed: 19208651). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]

SACS Products (2)

mRNA Protein Name
NM_001278055.2 NP_001264984.1 sacsin isoform 2
NM_014363.6 NP_055178.3 sacsin isoform 1
Molecular Function GO Annotation Evidence References Source
enables Hsp70 protein binding IPI
IPI: Inferred from physical interaction
19208651 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
21507954 GOA
enables low-density lipoprotein particle receptor binding IDA
IDA: Inferred from direct assay
15082773 GOA
enables proteasome binding IPI
IPI: Inferred from physical interaction
19208651 GOA
enables protein-folding chaperone binding IDA
IDA: Inferred from direct assay
19208651 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of inclusion body assembly IMP
IMP: Inferred from mutant phenotype
19208651 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
19208651 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
19208651 GOA
located in nucleus IDA
IDA: Inferred from direct assay
19208651 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

SACS Protein Structure

ubiquitin

ubiquitin: Ubiquitin family (24 - 67)

HEPN

HEPN: HEPN domain (4447 - 4568)

  • 0
  • 800
  • 1600
  • 2400
  • 3200
  • 4000
  • 4579 a.a.
Protein Preferred Names Protein Names

sacsin

  • dnaJ homolog subfamily C member 29

SACS Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SACS Q9NZJ4 ACTN4 Homo sapiens O43707
Y2H
16713569
Intra
SACS Q9NZJ4 PPP1CA Homo sapiens P62136 19389623
Intra
SACS Q9NZJ4 SACS Homo sapiens Q9NZJ4 21507954
Intra
SACS Q9NZJ4 P4HA2 Homo sapiens O15460-2 30021884
Intra
SACS Q9NZJ4 SACS Homo sapiens Q9NZJ4
NMR
21507954
Intra
SACS Q9NZJ4 ADRB2 Homo sapiens P07550 28298427
Intra
SACS Q9NZJ4 HNRNPA0 Homo sapiens Q13151 30021884
Intra
SACS Q9NZJ4 SACS Homo sapiens Q9NZJ4 21507954
Intra
SACS Q9NZJ4 SACS Homo sapiens Q9NZJ4
GMS
21507954
Intra
SACS Q9NZJ4 SOD1 Homo sapiens P00441 30021884
Intra
SACS Q9NZJ4 PICK1 Homo sapiens Q9NRD5
Y2H
16713569
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Spastic Ataxia, Charlevoix-Saguenay Type
  • Charlevoix-Saguenay Spastic Ataxia

  • Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay

  • Arsacs

  • SACS

  • Spax6

  • Spastic Ataxia Charlevoix-Saguenay Type

  • Spastic Ataxia 6, Autosomal Recessive

  • Autosomal Recessive Spastic Ataxia Type 6

  • Spastic Ataxia Of Charlevoix-Saguenay

  • Atx/Hsp-Sacs

  • Ataxia, Spastic, Charlevoix-Saguenay Type

Autosomal Recessive Spastic Ataxia
  • Ar-Spax

Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
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

Hereditary Ataxia
  • Sca

  • Spinocerebellar Ataxia

  • Ataxias Hereditary

  • Ataxias, Hereditary

Spastic Ataxia
  • Spax

  • Ataxia, Spastic

Spasticity
Neuropathy
  • Peripheral Neuropathy

  • Peripheral Neuropathies

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
  • PEOA3

  • Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 3

  • Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 3

  • Chronic Progressive External Ophthalmoplegia

  • Progressive External Ophthalmoplegia, Autosomal Dominant 3

  • Autosomal Dominant Progressive External Ophthalmoplegia 3

  • Cpeo

  • Graefe Disease

  • Mitochondrial Ocular Myopathy

  • Ocular Myopathy Of Von Graefe-Fuchs

  • Progressive External Ophthalmoplegia Autosomal Dominant 3

  • Progressive External Ophthalmoplegia, Autosomal Dominant, 3

  • Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 3

  • Kearns-Sayre Syndrome

Ataxia With Vitamin E Deficiency
  • Ataxia With Isolated Vitamin E Deficiency

  • AVED

  • Familial Isolated Vitamin E Deficiency

  • Friedreich-Like Ataxia

  • Familial Isolated Deficiency Of Vitamin E

  • Isolated Vitamin E Deficiency

  • Ataxia, Friedreich-Like, With Selective Vitamin E Deficiency

  • Vitamin E Deficiency, Familial Isolated

  • Ved

  • Friedreich-Like Ataxia With Selective Vitamin E Deficiency

  • Five

  • Friedreich Ataxia Phenotype With Selective Vitamin E Deficiency

  • Vitamin E Familial Isolated, Deficiency Of

  • Ataxia Friedreich-Like With Selective Vitamin E Deficiency

Lichtenstein-Knorr Syndrome
  • Scar19

  • LIKNS

  • Autosomal Recessive Spinocerebellar Ataxia 19

  • Spinocerebellar Ataxia, Autosomal Recessive 19

  • Progressive Autosomal Recessive Ataxia-Deafness Syndrome

  • Progressive Autosomal Recessive Ataxia-Sensorineural Hearing Loss Syndrome

  • Spinocerebellar Ataxia, Autosomal Recessive, 19

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

Marinesco-Sjogren Syndrome
  • Marinesco-Sjögren Syndrome

  • MSS

  • Marinesco-Garland Syndrome

  • Garland-Moorhouse Syndrome

  • Hereditary Oligophrenic Cerebello-Lental Degeneration

  • Oligophrenic Cerebellolenticular Degeneration

  • Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism

  • Marinesco-Sjogren Syndrome-Myopathy

  • Marinesco-Sjogren-Garland Syndrome

  • Marinesco-Sjoegren Syndrome

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

Hereditary Spastic Paraplegia 23
  • Lison Syndrome

  • Spastic Paraparesis-Vitiligo-Premature Graying-Characteristic Facies Syndrome

  • Spastic Paraplegia 23

  • Spastic Paraplegia With Pigmentary Abnormalities

  • Spg23

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

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

Spinocerebellar Ataxia 38
  • Spinocerebellar Ataxia Type 38

  • SCA38

  • Ataxia, Spinocerebellar, Type 38

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

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

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 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

Coenzyme Q10 Deficiency Disease
  • Coenzyme Q10 Deficiency

  • Coq10 Deficiency

  • Primary Coenzyme Q10 Deficiency

  • Coenzyme Q Deficiency

  • Coq Deficiency

  • Primary Coq10 Deficiency

  • Ubiquinone Deficiency

  • Coenzyme Q10 Deficiency, Primary

  • Coq10 Deficiency, Primary

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

Autosomal Recessive Cerebellar Ataxia
  • Arca

Spinocerebellar Ataxia 15
  • SCA15

  • Spinocerebellar Ataxia Type 15

  • Spinocerebellar Ataxia Type 16

  • Sca16

  • Spinocerebellar Ataxia Type 15/16

  • Spinocerebellar Ataxia 16, Formerly

  • Sca16, Formerly

  • Spinocerebellar Ataxia 16

  • Sca15/16

  • Ataxia, Spinocerebellar, Type 15

Cerebellar Disease
  • Cerebellar Diseases

  • Cerebellar Dysfunction

  • Cerebellar Abnormality

  • Cerebellar Disorders

Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
  • Dysequilibrium Syndrome

  • CAMRQ1

  • Des

  • Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 1

  • Cerebellar Hypoplasia, Vldlr-Associated

  • Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion 1

  • Cerebellar Ataxia, Mental Retardation And Dysequlibrium Syndrome

  • Uner Tan Syndrome

  • Vldlr Cerebellar Hypoplasia

  • Vldlrch

  • Vldlr-Associated Cerebellar Hypoplasia

  • Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1

  • Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive

  • Camrq

  • Cerebellar Ataxia, Mental Retardation, Dysequilibrium Syndrome 1

  • Cerebellar Disorder, Nonprogressive, With Intellectual Disability

  • Cerebellar Hypoplasia, Vldlr Associated

  • Autosomal Recessive Cerebellar Ataxia With Mental Retardation

  • Autosomal Recessive Cerebellar Hypoplasia With Cerebral Gyral Simplification

  • Cerebellar Disorder, Nonprogressive, With Mental Retardation

  • Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion

  • Chmrq1

  • Des-Vldlr

  • Dysequilibrium Syndrome-Vldlr

  • Vldlr-Ch

  • Camrq Syndrome

  • Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome

  • Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome

  • Uts

  • Cerebellar Hypoplasia Vldlr-Associated

  • Dialysis Disequilibrium Syndrome

Refsum Disease, Classic
  • Refsum Disease

  • Heredopathia Atactica Polyneuritiformis

  • Phytanic Acid Oxidase Deficiency

  • Hmsn Iv

  • Refsum Disease, Adult, 1

  • Refsum'S Disease

  • Phytanic Acid Storage Disease

  • Hereditary Motor And Sensory Neuropathy Iv

  • Hmsn4

  • Hmsn Type Iv

  • Hmsn 4

  • Adult Refsum Disease

  • Classic Refsum Disease

  • Hereditary Motor And Sensory Neuropathy Type Iv

  • Refsum Syndrome

  • Hsmn Iv

  • Disorder Of Cornification 11

  • Doc 11

  • Hereditary Sensory And Motor Neuropathy Type 4

  • Hypertrophic Neuropathy Of Refsum

  • Ard

  • Crd

  • Hereditary Motor And Sensory Neuropathy Type 4

  • Phytanic-Coa Hydroxylase Deficiency

  • RD

Autosomal Dominant Cerebellar Ataxia
  • Spinocerebellar Ataxia

  • Adca

  • Pierre Marie Cerebellar Ataxia

  • Ataxia, Spinocerebellar

  • Sca

  • Autosomal Dominant Spinocerebellar Ataxia

  • Spinocerebellar Ataxias

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

Progressive Myoclonus Epilepsy
  • Pme

  • Progressive Myoclonic Epilepsy

  • Myoclonic Epilepsies, Progressive

  • Unverricht-Lundborg Syndrome

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

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus SACS VGNC VGNC:64852
Canis familiaris SACS VGNC VGNC:45842
Bos taurus SACS VGNC VGNC:34260
Mus musculus SACS MGD MGI:1354724
Rattus norvegicus SACS RGD RGD:1307281
Macaca mulatta SACS VGNC VGNC:76963
Others SACS NCBI