Pages
Products

SACS


Official Full Name
sacsin molecular chaperone
Organism
Homo sapiens
Gene ID
26278
Background
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]
Synonyms
SPAX6; ARSACS; DNAJC29; PPP1R138

Cat.No. Product Name Price
LV24618L human SACS (NM_014363) lentivirus particles Inquiry
Cat.No. Product Name Price
SHH401452 shRNA set against Human SACS (NM_014363.4) Inquiry
SHH401456 shRNA set against Mouse SACS (NM_172809.3) Inquiry
SHR203136 shRNA set against Mouse Sacs(NM_172809.3) Inquiry
SHR203566 shRNA set against Human SACS(NM_014363.4) Inquiry
Cat.No. Product Name Price
CDFH016868 Human SACS cDNA Clone(NM_014363.4) Inquiry
CDFL011885 Mouse Sacs cDNA Clone(NM_172809.3) Inquiry
MiUTR1H-09122 SACS miRNA 3'UTR clone Inquiry
MiUTR1M-10381 SACS miRNA 3'UTR clone Inquiry
CDCB192846 Rabbit SACS ORF clone (XM_008259908.1) Inquiry
CDCH076674 Mouse Sacs ORF clone (NM_172809.3) Inquiry
CDCR297242 Human SACS ORF Clone(NM_014363.4) Inquiry
Quick Inquiry