Aliases for GATM Gene
External Ids for GATM Gene
Previous GeneCards Identifiers for GATM Gene
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]
GeneCards Summary for GATM Gene
GATM (Glycine Amidinotransferase) is a Protein Coding gene. Diseases associated with GATM include Cerebral Creatine Deficiency Syndrome 3 and Cerebral Creatine Deficiency Syndrome. Among its related pathways are Urea cycle and metabolism of amino groups and Glycine, serine and threonine metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines and glycine amidinotransferase activity.
UniProtKB/Swiss-Prot Summary for GATM Gene
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.