Target：SACS

Gene Name：SACS KIAA0730

Protein Name：Sacsin (DnaJ homolog subfamily C member 29) (DNAJC29)

Human Gene Id：26278

Human Swiss Prot No：Q9NZJ4

Mouse Swiss Prot No：Q9JLC8

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

Specificity：SACS Polyclonal Antibody detects endogenous levels of protein.

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

Source：Polyclonal, Rabbit,IgG

Dilution：IHC 1:50-300. IF 1:50-200

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

Concentration：1 mg/ml

Storage Stability：-15°C to -25°C/1 year(Do not lower than -25°C)

Observed Band(KD)：503kD

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).

Function：disease:Defects in SACS are the cause of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) [MIM:270550]. ARSACS is an early onset neurodegenerative disease with high prevalence in the Charlevoix-Saguenay-Lac-Saint-Jean region of Quebec. It is characterized by absent sensory-nerve conduction, reduced motor-nerve velocity and hypermyelination of retinal-nerve fibers.,function:May function in chaperone-mediated protein folding.,similarity:Contains 1 HEPN domain.,similarity:Contains 1 J domain.,tissue specificity:Highly expressed in the central nervous system. Also found in skeletal muscle and at low levels in pancreas.,

Subcellular Location：Cytoplasm . Predominantly cytoplasmic, a small portion is present in the nucleus and also shows a partial mitochondrial overlap with the mitochondrial marker Hsp60.

Expression：Highly expressed in the central nervous system. Also found in skeletal muscle and at low levels in pancreas.