Biology:GATM (gene)

Glycine amidinotransferase, mitochondrial is an enzyme that in humans is encoded by the GATM gene.^[1]^[2]

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.^[2]

References

↑ "The amino acid sequences of human and pig L-arginine:glycine amidinotransferase". FEBS Lett 339 (1–2): 101–7. Mar 1994. doi:10.1016/0014-5793(94)80394-3. PMID 8313955.
↑ ^2.0 ^2.1 "Entrez Gene: GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2628.

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