SACS Polyclonal Antibody Sizes: 50μL, 100μL Catalogue Numbers: RA34721-50, RA34721-100 Lead times: 1-2 weeks, if manufacturer has product in stock Manufacturer/Ship Location: China Background: sacsin molecular chaperone (SACS) Homo sapiens 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). Reactivity: Human, Mouse Host: Rabbit Applications: IHC-p, IF (paraffin section) Clonality: Polyclonal Dilution: IHC-p 1:50-300 Molecular Weight: 503 Protein Molecular Weight (kDa): 503 Storage: -20°C/1 year Human Gene ID: 26278 Human SwissProt Number: Q9NZJ4 Condition: Liquid in PBS containing 50% glycerol, and 0.02% sodium azide. Research Use Only