Aliases for SACS Gene
External Ids for SACS Gene
Previous GeneCards Identifiers for SACS Gene
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]
GeneCards Summary for SACS Gene
SACS (Sacsin Molecular Chaperone) is a Protein Coding gene. Diseases associated with SACS include Spastic Ataxia, Charlevoix-Saguenay Type and Autosomal Recessive Spastic Ataxia. Gene Ontology (GO) annotations related to this gene include chaperone binding and proteasome binding.
UniProtKB/Swiss-Prot Summary for SACS Gene
Co-chaperone which acts as a regulator of the Hsp70 chaperone machinery and may be involved in the processing of other ataxia-linked proteins.