SACS Polyclonal Antibody

Ab type

Primary antibody

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).

Reactivity

Human, Mouse

Clonality

Polyclonal

Host

Rabbit

Isotype

IgG

Immunogen

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

Storage Stability

-20°C for 1 year

Concentration

1 mg/ml

MolecularWeight_Da

synonyms

Sacsin ;DnaJ homolog subfamily C member 29;DNAJC29