SACS rabbit pAb

• 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) .

• Description :

  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).

• UniProt :

  Q9NZJ4

• Swiss Prot :

  Q9NZJ4

• Reactivity :

  Human; Mouse

• Immunogen :

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

• Clonality :

  Polyclonal

• Source :

  Rabbit

• Applications :

  IHC; IF

• Concentration :

  1 mg/ml

• Dilution :

  IHC-p 1:50-300

• Molecular Weight :

  503kD

• Storage Conditions :

  -20°C/1 year

• Observed Molecular Weight :

  503kD

• Fragment :

  IgG

• 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.

• Gene ID (Human) :

  26278