Recombinant Human GAMT, His-tagged

• Cat.No.: GAMT-28972TH
• Product Overview: Recombinant full length human GAMT fused to His-tag at N-terminus; amino acids 1-236 , 28.4kDa.

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.
• Conjugation: HIS
• Source: E. coli
• Form: Liquid
• Purity: >95% by SDS-PAGE
• Storage buffer: Preservative: NoneConstituents: 10% Glycerol, 20mM Tris HCl, 1mM DTT, pH 8.0
• Storage: Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Store in the dark. Avoid repeated freeze / thaw cycles.

Gene Information

• Gene Name: GAMT guanidinoacetate N-methyltransferase [ Homo sapiens ]
• Official Symbol: GAMT
• Synonyms: GAMT; guanidinoacetate N-methyltransferase; PIG2; TP53I2
• Gene ID: 2593
• mRNA Refseq: NM_000156
• Protein Refseq: NP_000147
• MIM: 601240
• Uniprot ID: Q14353
• Chromosome Location: 19p13.3
• Pathway: Arginine and proline metabolism, organism-specific biosystem; Arginine and proline metabolism, conserved biosystem; Creatine metabolism, organism-specific biosystem; Creatine pathway, organism-specific biosystem; Creatine pathway, conserved biosystem
• Function: guanidinoacetate N-methyltransferase activity; methyltransferase activity; transferase activity