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. Note: This description may include information from UniProtKB.
Protein type: Amino Acid Metabolism - arginine and proline; Amino Acid Metabolism - glycine, serine and threonine; EC; 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 or memory; multicellular organism development; muscle atrophy; positive regulation of cold-induced thermogenesis
Disease: Cerebral Creatine Deficiency Syndrome 3
Reference #:  P50440 (UniProtKB)
Alt. Names/Synonyms: AGAT; AT; GATM; glycine amidinotransferase (L-arginine:glycine amidinotransferase); Glycine amidinotransferase, mitochondrial; L-arginine:glycine amidinotransferase; Transamidinase
Gene Symbols: GATM
Molecular weight: 48,455 Da
Basal Isoelectric point: 8.26  Predict pI for various phosphorylation states
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Protein Structure Not Found.

Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  Reactome  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  RCSB PDB  |  ENZYME  |  Phospho3D  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene  |  InnateDB