{"symbol":"SACS","synonyms":["ARSACS","DNAJC29","SPAX6","PPP1R138"],"name":"sacsin molecular chaperone","description":"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]","ncbiEntrezGeneId":26278,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/26278","proteins":[{"symbol":"SACS_HUMAN","href":"/api/1.0/protein/SACS_HUMAN"}],"hgncRootFamilies":[{"name":"Heat shock proteins","href":"/api/1.0/gene_family/Heat+shock+proteins"},{"name":"Protein phosphatase 1 regulatory subunits (PPP1R)","href":"/api/1.0/gene_family/Protein+phosphatase+1+regulatory+subunits+%28PPP1R%29"}]}