Identity
HGNC
LOCATION
13q12.12
LOCUSID
ALIAS
ARSACS,DNAJC29,PPP1R138,SPAX6
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 26278
MIM: 604490
HGNC: 10519
Ensembl: ENSG00000151835
Variants:
dbSNP: 26278
ClinVar: 26278
TCGA: ENSG00000151835
COSMIC: SACS
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000151835 | ENST00000382292 | Q9NZJ4 |
| ENSG00000151835 | ENST00000402364 | Q9NZJ4 |
| ENSG00000151835 | ENST00000423156 | B2REB0 |
| ENSG00000151835 | ENST00000455470 | H0Y6M8 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35933016 | 2022 | The ARSACS disease protein sacsin controls lysosomal positioning and reformation by regulating microtubule dynamics. | 10 |
| 36555380 | 2022 | The J Domain of Sacsin Disrupts Intermediate Filament Assembly. | 3 |
| 35933016 | 2022 | The ARSACS disease protein sacsin controls lysosomal positioning and reformation by regulating microtubule dynamics. | 10 |
| 36555380 | 2022 | The J Domain of Sacsin Disrupts Intermediate Filament Assembly. | 3 |
| 33559790 | 2021 | A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. | 2 |
| 33746006 | 2021 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families. | 4 |
| 34429451 | 2021 | Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth. | 8 |
| 33559790 | 2021 | A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. | 2 |
| 33746006 | 2021 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families. | 4 |
| 34429451 | 2021 | Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth. | 8 |
| 31701440 | 2020 | A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases. | 12 |
| 31701440 | 2020 | A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases. | 12 |
| 30332300 | 2019 | Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics. | 21 |
| 30835349 | 2019 | [Analysis of SACS mutation in a family affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay]. | 2 |
| 30332300 | 2019 | Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics. | 21 |
Citation
Dessen P
SACS (sacsin molecular chaperone)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/47398/sacs-(sacsin-molecular-chaperone)
