蛋白质/抗原/多肽 >> 重组蛋白
重组charlevoix-saguenay型痉挛性共济失调Sacsin蛋白
产品介绍 基因名: SACS 产品别名: ARSACS; DNAJC29; PPP1R138; SPAX6; SACS; sacsin molecular chaperone; sacsin molecular chaperone; sacsin; dnaJ homolog subfamily C member 29; protein phosphatase 1, regulatory subunit 138; spastic ataxia of Charlevoix-Saguenay (sacsin); charlevoix-saguenay型痉挛性共济失调Sacsin蛋白; 背景信息: 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] 标签:His-tag |
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