Recombinant Human GAMT Protein, MYC/DDK-tagged

• Cat.No.: GAMT-1250H
• Product Overview: Recombinant human GAMT protein, fused to MYC/DDK tag at C-terminus, was expressed in HEK293.

Specification

• Description: 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. [provided by RefSeq, Feb 2012].
• Form: 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10 % glycerol.
• Molecular Mass: 29.2 kDa
• Purity: >50 ug/mL as determined by microplate BCA method
• Concentration: >50 ug/mL as determined by microplate BCA method

Gene Information

• Gene Name: GAMT guanidinoacetate N-methyltransferase [ Homo sapiens ]
• Official Symbol: GAMT
• Synonyms: CCDS2; HEL-S-20; PIG2; TP53I2
• Gene ID: 2593
• mRNA Refseq: NM_000156
• Protein Refseq: NP_000147
• MIM: 601240
• UniProt ID: Q14353