SACS encodes the sacsin protein, which includes a UbL domain at the N-terminal, a DnaJ domain, and a HEPN domain at the C-terminal.
SACS is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas.
SACS includes a very large exon spanning more than 12kb.
Mutations in SACS 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).
A pseudogene associated with this gene is located on chromosome 11.
Alternative splicing of this gene results in multiple transcript variants.
Applications:Suitable for use in Immunohistochemistry.
Other applications not tested.
Recommended Dilution:Immunohistochemistry (paraffin): 1:50-1:300Optimal dilutions to be determined by the researcher.
Storage and Stability:May be stored at 4°C for short-term only.
Aliquot to avoid repeated freezing and thawing.
Store at -20°C.
Aliquots are stable for 12 months after receipt.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
仕様
Size：30ul
Host：rabbit
Source Antibody：human
Grade：Affinity Purified
Purity：Purified by immunoaffinity chromatography.
Form：Supplied as a liquid in PBS, pH 7.4, 0.02% sodium azide, 50% glycerol.
Specificity：Recognizes endogenous levels of human SACS. Species Crossreactivity: mouse
Isotype：IgG
Calc Applications Abbrev：IHC
Calc Crossreactivity：Hu Mo
Immunogen：Synthetic peptide corresponding to aa4291-4340 from human SACS.
