GATM encodes a mitochondrial enzyme that belongs to the amidinotransferase family.
GATM Antigen Profile
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 mental retardation, language impairment, and behavioral disorders.
Gene names and symbols associated with GATM
glycine amidinotransferase (L-arginine:glycine amidinotransferase) L homeolog (gatm.L) antibody