Guanidinoacetate N-Methyltransferase Isoform Human, Aa1-256, His Tag (GAMT) Human Recombinant Protein

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]

GAMT: Defects in GAMT are the cause of guanidinoacetate methyltransferase deficiency (GAMT deficiency). GAMT deficiency is an autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures and movement disturbances, severe depletion of creatine/phosphocreatine in the brain, and accumulation of guanidinoacetic acid (GAA) in brain and body fluids. Belongs to the class I-like SAM-binding methyltransferase superfamily. RMT2 methyltransferase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Amino Acid Metabolism - arginine and proline; Amino Acid Metabolism - glycine, serine and threonine; Contractile; Methyltransferase; EC 2.1.1.2

Chromosomal Location of Human Ortholog: 19p13.3

Cellular Component: cytosol

Molecular Function: methyltransferase activity; guanidinoacetate N-methyltransferase activity

Biological Process: methylation; creatine biosynthetic process; organ morphogenesis; muscle contraction; regulation of multicellular organism growth; spermatogenesis; creatine metabolic process

Disease: Cerebral Creatine Deficiency Syndrome 2