Recombinant Human GAMT cell lysate GAMT-684HCL

Recombinant Human GAMT cell lysate

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Recombinant Human GAMT cell lysate

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Cat.No. : GAMT-684HCL
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.
Species : Human
Size : 100 ul
Storage Buffer : 1X Sample Buffer (50 mM Tris-HCl, 2% SDS, 10% glycerol, 300 mM 2-mercaptoethanol, 0.01% Bromophenol blue)
Applications : Western Blot;
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; Glycine, serine and threonine metabolism, organism-specific biosystem; Glycine, serine and threonine metabolism, conserved biosystem;
Function : guanidinoacetate N-methyltransferase activity; methyltransferase activity; transferase activity;

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