Sacsin

BT-AP14028

Rabbit

IgG

100ul,50ul,20ul

Polyclonal

Synthesized peptide derived from human protein . at AA range: 4291-4340

The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

1 mg/ml

Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.

-20°C for 1 year

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).

Human: Q9NZJ4; Mouse: Q9JLC8;

Human: 26278

Sacsin ;DnaJ homolog subfamily C member 29;DNAJC29

Epigenetics and nuclear signaling; Metabolism; Signal transduction

SACS