Sacsin 产品
(Spastic Ataxia of Charlevoix-Saguenay (Sacsin) (SACS))
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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). [provided by RefSeq, Apr 2012].
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Sacsin 抗体
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Synonyms and alternative names related to Sacsin
sacsin (Sacs), sacsin molecular chaperone (SACS), A230052M14, ARSACS, DNAJC29, E130115J16Rik, mKIAA0730Protein level used designations for Sacsin
- dnaJ homolog subfamily C member 29
- sacsin
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