Sacsin (SACS) Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	WB
Reactivity	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.
Concentration	lot specific
Purification	Affinity purified
Conjugation	Unconjugated
Storage Condition	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.
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

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