SACS
spastic ataxia of Charlevoix-Saguenay (sacsin)
Synonyms:
ARSACS, DNAJC29
Species:
Human SACS (26278), Mouse Sacs (50720), Rat Sacs (305940), naked mole-rat Sacs (101699487), chicken SACS (418944), dog SACS (477339), sheep SACS (101116919), Horse SACS (100057366), cow SACS (539378), Zebrafish sacs (558150) ...More
UniProtKB ID:
Gene ID:
- Human(26278) 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]
- Mouse(50720) sacsin
- Rat(305940) spastic ataxia of Charlevoix-Saguenay (sacsin)
- naked mole-rat(101699487) spastic ataxia of Charlevoix-Saguenay (sacsin)
- chicken(418944) spastic ataxia of Charlevoix-Saguenay (sacsin)
- dog(477339) spastic ataxia of Charlevoix-Saguenay (sacsin)
- sheep(101116919) spastic ataxia of Charlevoix-Saguenay (sacsin)
- Horse(100057366) spastic ataxia of Charlevoix-Saguenay (sacsin)
- cow(539378) spastic ataxia of Charlevoix-Saguenay (sacsin)
- Zebrafish(558150) spastic ataxia of Charlevoix-Saguenay (sacsin)
- domestic cat(101095068) spastic ataxia of Charlevoix-Saguenay (sacsin)
- domestic guinea pig(100728172) spastic ataxia of Charlevoix-Saguenay (sacsin)
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