GAMT Products

Description

GAMT is 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.

Bioinformatics

Entrez	2593 Human
Uniprot	A8K0A0 Human NP_000147 Human NP_000147.1 Human NP_620279 Human
Product By Gene ID	2593
Alternate Names	EC 2.1.1.2 guanidinoacetate N-methyltransferase PIG2 TP53I2