Sacsin (SACS) Rabbit Polyclonal Antibody

CAT#: TA362586

SACS Antibody - C-terminal region

Product Images

Host: Rabbit Target Name: SACS Sample Tissue: Human 293T Whole Cell lysates Antibody Dilution: 1ug/ml

Specifications

Product Data

• Applications: WB
• Reactivities: Human
• Host: Rabbit
• Clonality: Polyclonal
• Immunogen: The immunogen is a synthetic peptide directed towards the C terminal region of human SACS
• Specificity: Expected reactivity: Human
• Formulation: Liquid. Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
  Note that this product is shipped as lyophilized powder to China customers.
• Concentration: lot specific
• Purification: Affinity purified
• Conjugation: Unconjugated
• Storage: For short term use, store at 2-8°C up to 1 week. For long term storage, store at -20°C in small aliquots to prevent freeze-thaw cycles.
• Stability: Shelf life: one year from despatch.
• Predicted Protein Size: 33 kDa
• Gene Name: sacsin molecular chaperone
• Database Link:
  NP_055178.3
  Entrez Gene 26278 Human
  UniProt ID Q7Z6W7
• 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". A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants.
• Synonyms: AR; ARSACS; DKFZp686B15167; KIAA0730; OTTHUMP00000018109; sacsin

Reference Data

• Protein Families: Druggable Genome