SACS

Name

sacsin molecular chaperone

Type

protein-coding

Position

23,288,689–23,433,763 (−)

Aliases

ARSACS, DNAJC29, PPP1R138, SPAX6

Ensembl

ENSG00000151835

RefSeq RNA

NM_001278055.2, NM_001437336.1, NM_014363.6, NM_152752.1, XM_011535039.3

RefSeq protein

NP_001264984.1, NP_001424265.1, NP_055178.3, XP_011533341.1, XP_016876028.1

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].