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).

Classification:

Primary antibody

Alternative names:

Sacsin ;DnaJ homolog subfamily C member 29;DNAJC29

Species reactivity:

Human, Mouse

Host:

Rabbit

Isotype:

IgG

Immunogen:

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

Concentration:

1 mg/ml

Molecular weight:

Applications:

IHC-p, IF

Storage:

-20°C for 1 year

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