SACS Polyclonal Antibody

SACS encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. SACS is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. SACS includes a very large exon spanning more than 12. kb. Mutations in SACS 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.

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Stable for one year at -20°C from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap. Aliquot to avoid repeated freezing and thawing.

Optimal working dilutions should be determined experimentally by the investigator. Suggested starting dilutions are as follows: IHC 1:50-300; IF 1:50-200