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ATXN3 Full-Length MS Protein Standard

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Product Description


NameATXN3 Full-Length MS Protein Standard
Cat#CPFL318923
Protein Nameataxin 3
SymbolATXN3
SynonymsAT3; ATX3; JOS; MJD; MJD1; SCA3
AccessionNM_004993
Cytogenetic14q21
Amino Acid Labeled[U- 13C6, 15N4]-L-Arg and [U- 13C6, 15N2]-L-Lys
DescriptionATXN3 Full-Length MS Protein Standard (NP_004984), Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine, was produced in human 293 cells (HEK293) with fully chemically defined cell culture medium to obtain incorporation efficiency at Creative-Proteomics. Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.

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