Glycine Amidinotransferase (GATM) ELISA Kit for Human

This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by cognitive disability, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008]

GATM: Catalyzes the biosynthesis of guanidinoacetate, the immediate precursor of creatine. Creatine plays a vital role in energy metabolism in muscle tissues. May play a role in embryonic and central nervous system development. May be involved in the response to heart failure by elevating local creatine synthesis. Defects in GATM are the cause of arginine:glycine amidinotransferase deficiency (AGAT deficiency). AGAT deficiency is an autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain. Belongs to the amidinotransferase family. 3 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; EC 2.1.4.1; Mitochondrial; Transferase

Chromosomal Location of Human Ortholog: 15q21.1

Cellular Component: mitochondrial inner membrane; mitochondrial intermembrane space; mitochondrion

Molecular Function: glycine amidinotransferase activity

Biological Process: creatine biosynthetic process; creatine metabolic process; learning and/or memory; multicellular organism development; muscle atrophy

Disease: Cerebral Creatine Deficiency Syndrome 3