Tissue expression
Cell line expression
Protein structure
SACS
Sacsin molecular chaperoneARSACS, DKFZp686B15167, DNAJC29, KIAA0730, PPP1R138, SPAX6
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]
Top validated antibodies |
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Novus Biologicals | 24340002 | 2 references | Polyclonal |
WB
EL
IHC
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Boster Biological Technology | A00519 | Polyclonal |
WB
EL
IHC
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Cusabio Biotech Co., Ltd | CSB-PA873707LA01HU | Polyclonal |
EL
ICC
IHC
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Biorbyt | orb221914 | Polyclonal |
EL
ICC
IHC
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NSJ Bioreagents | RQ4029 | Polyclonal |
WB
EL
IHC
|
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