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GAMT Full-Length MS Protein Standard

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Product Description


NameGAMT Full-Length MS Protein Standard
Cat#CPFL300528
Protein NameGamt guanidinoacetate methyltransferase
SymbolGAMT
SynonymsCCDS2; HEL-S-20; PIG2; TP53I2
AccessionNM_000156
Cytogenetic19p13.3
Amino Acid Labeled[U- 13C6, 15N4]-L-Arg and [U- 13C6, 15N2]-L-Lys
DescriptionGAMT Full-Length MS Protein Standard (NP_000147), 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. The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13.

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