SACS Chromosome 13
Sacsin molecular chaperone
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What This Gene Does
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]
Gene Info
Gene Group
"DNAJ (HSP40) heat shock proteins|Protein phosphatase 1 regulatory subunits"
Locus Type
gene with protein product
Location
13q12.12
Ensembl
ENSG00000151835
Associated Conditions (24)
Spastic paraplegia
Inborn genetic diseases
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
SACS-related disorder
Intellectual disability
Spastic ataxia
Familial cancer of breast
Charcot-Marie-Tooth disease
Malignant tumor of esophagus
See cases
Abnormal brain morphology
Autosomal recessive spastic ataxia
Papillary renal cell carcinoma type 1
Charcot-Marie-Tooth disease X-linked dominant 1
Abnormal central motor function
Ovarian serous cystadenocarcinoma
Ataxia
spastic
childhood-onset
+4 more conditions
Key Variants
RS1007562396
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
RS1007936574
Conflicting classifications of pathogenicity
Charlevoix-Saguenay spastic ataxia, Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
Health Risk
RS1011559873
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
RS1033188876
Conflicting classifications of pathogenicity
Charlevoix-Saguenay spastic ataxia, Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
Health Risk
RS1034981619
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
RS1041641264
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
RS1049580052
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS111540787
Conflicting classifications of pathogenicity
Charlevoix-Saguenay spastic ataxia, Spastic paraplegia, Hereditary spastic paraplegia
Health Risk
RS111846884
Conflicting classifications of pathogenicity
Spastic paraplegia, Charlevoix-Saguenay spastic ataxia, Hereditary spastic paraplegia
Health Risk
RS111920492
Conflicting classifications of pathogenicity
Spastic paraplegia, Charlevoix-Saguenay spastic ataxia, Hereditary spastic paraplegia
Health Risk
RS112630127
Conflicting classifications of pathogenicity
Spastic paraplegia, Charlevoix-Saguenay spastic ataxia, Hereditary spastic paraplegia
Health Risk
RS113595574
Conflicting classifications of pathogenicity
Spastic paraplegia, Charlevoix-Saguenay spastic ataxia, Hereditary spastic paraplegia
Health Risk
All Variants (1256)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2542441975 | Health Risk | Likely pathogenic | Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS2542442602 | Health Risk | Likely pathogenic | Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS2542458038 | Health Risk | Likely pathogenic | Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS2542473698 | Health Risk | Likely pathogenic | Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS2542473988 | Health Risk | Likely pathogenic | Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS2542474575 | Health Risk | Likely pathogenic | Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS2542474905 | Health Risk | Likely pathogenic | Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS2542501436 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2542502077 | Health Risk | Likely pathogenic | Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS2542505295 | Health Risk | Likely pathogenic | Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS2542505639 | Health Risk | Likely pathogenic | Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS2542505809 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS376376974 | Health Risk | Likely pathogenic | — |
| RS61326562 | Health Risk | Likely pathogenic | Charlevoix-Saguenay spastic ataxia, Spastic paraplegia, Hereditary spastic paraplegia |
| RS61548169 | Health Risk | Likely pathogenic | Spastic paraplegia, Charlevoix-Saguenay spastic ataxia, Hereditary spastic paraplegia |
| RS727503785 | Health Risk | Likely pathogenic | Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS745961541 | Health Risk | Likely pathogenic | Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS753277514 | Health Risk | Likely pathogenic | Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS756597098 | Health Risk | Likely pathogenic | Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS764585158 | Health Risk | Likely pathogenic | — |
| RS765992922 | Health Risk | Likely pathogenic | Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS767871841 | Health Risk | Likely pathogenic | Charlevoix-Saguenay spastic ataxia, Spastic paraplegia, Spastic paraplegia |
| RS771943685 | Health Risk | Likely pathogenic | Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS778777806 | Health Risk | Likely pathogenic | Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS780197970 | Health Risk | Likely pathogenic | Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS797044608 | Health Risk | Likely pathogenic | Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS866477353 | Health Risk | Likely pathogenic | Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS959856535 | Health Risk | Likely pathogenic | Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS983822008 | Health Risk | Likely pathogenic | Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS1057516438 | Health Risk | Pathogenic | Charlevoix-Saguenay spastic ataxia, Spastic paraplegia, Charlevoix-Saguenay spastic ataxia |
| RS1057516635 | Health Risk | Pathogenic | Charlevoix-Saguenay spastic ataxia, Spastic paraplegia, Charlevoix-Saguenay spastic ataxia |
| RS1057516930 | Health Risk | Pathogenic | Charlevoix-Saguenay spastic ataxia, Spastic paraplegia, Charlevoix-Saguenay spastic ataxia |
| RS1057516932 | Health Risk | Pathogenic | Charlevoix-Saguenay spastic ataxia, Spastic paraplegia, Charlevoix-Saguenay spastic ataxia |
| RS1057517060 | Health Risk | Pathogenic | Charlevoix-Saguenay spastic ataxia, Spastic paraplegia, Charlevoix-Saguenay spastic ataxia |
| RS1057517311 | Health Risk | Pathogenic | Charlevoix-Saguenay spastic ataxia, Spastic paraplegia, Charlevoix-Saguenay spastic ataxia |
| RS1174846895 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1195919156 | Health Risk | Pathogenic | Spastic paraplegia, Charlevoix-Saguenay spastic ataxia, Spastic paraplegia |
| RS1213203489 | Health Risk | Pathogenic | Spastic paraplegia, Charlevoix-Saguenay spastic ataxia, See cases |
| RS1214399996 | Health Risk | Pathogenic | Charlevoix-Saguenay spastic ataxia, Spastic paraplegia, Charlevoix-Saguenay spastic ataxia |
| RS1220821559 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1223368199 | Health Risk | Pathogenic | Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia |
| RS1228783766 | Health Risk | Pathogenic | Spastic paraplegia, Charlevoix-Saguenay spastic ataxia, Spastic paraplegia |
| RS1236699656 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1238606214 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1240368715 | Health Risk | Pathogenic | Charlevoix-Saguenay spastic ataxia, Spastic paraplegia, Charlevoix-Saguenay spastic ataxia |
| RS1248031379 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1259615333 | Health Risk | Pathogenic | Charlevoix-Saguenay spastic ataxia, Spastic paraplegia, Charlevoix-Saguenay spastic ataxia |
| RS1272702356 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1279216400 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1285760809 | Health Risk | Pathogenic | Spastic paraplegia, Charlevoix-Saguenay spastic ataxia, Spastic paraplegia |