UniProt Protein Function: | |
UniProt Protein Details: | |
NCBI 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] |
UniProt Code: | Q9NZJ4 |
NCBI GenInfo Identifier: | |
NCBI Gene ID: | 26278 |
NCBI Accession: | |
UniProt Secondary Accession: | Q9NZJ4 |
UniProt Related Accession: | Q9NZJ4 |
Molecular Weight: | Observed MW: 521kDa |
NCBI Full Name: | |
NCBI Synonym Full Names: | sacsin molecular chaperone |
NCBI Official Symbol: | SACSÂ Â |
NCBI Official Synonym Symbols: | SPAX6; ARSACS; DNAJC29; PPP1R138Â Â |
NCBI Protein Information: | sacsin |
UniProt Protein Name: | |
UniProt Synonym Protein Names: | |
Protein Family: | Sacsin |
UniProt Gene Name: | |
UniProt Entry Name: | |