• Source: GATM (gene)

Glycine amidinotransferase, mitochondrial is an enzyme that in humans is encoded by the 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 mental retardation, language impairment, and behavioral disorders.




References






Further reading






External links


GeneReviews/NCBI/NIH/UW entry on Creatine Deficiency Syndromes

Kata Kunci Pencarian:

• Daftar gen penyandi protein pada manusia/2
• GATM (gene)
• GATM
• Cerebral creatine deficiency
• Chromosome 15
• Arginine:glycine amidinotransferase
• WDR88
• List of human protein-coding genes 2
• Arginine:glycine amidinotransferase deficiency
• Shingo Prize
• Barbara Engelhardt