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Normal Function
The GATM gene provides instructions for making the enzyme arginine:glycine amidinotransferase. This enzyme participates in the two-step production (synthesis) of the compound creatine from the protein building blocks (amino acids) glycine, arginine, and methionine. Specifically, arginine:glycine amidinotransferase controls the first step of the process. In this step, a compound called guanidinoacetic acid is produced by transferring a cluster of nitrogen and hydrogen atoms called a guanidino group from arginine to glycine. Guanidinoacetic acid is converted to creatine in the second step of the process. Creatine is needed for the body to store and use energy properly.
Health Conditions Related to Genetic Changes
Arginine:glycine amidinotransferase deficiency
At least two mutations in the GATM gene cause arginine:glycine amidinotransferase deficiency, a disorder that involves delayed development, intellectual disability, and in some cases muscle weakness. These mutations result in the production of an abnormally shortened arginine:glycine amidinotransferase enzyme or disrupt how genetic information is pieced together to make a blueprint for producing the enzyme.
GATM gene mutations interfere with the ability of the arginine:glycine amidinotransferase enzyme to participate in creatine synthesis, resulting in a shortage of creatine. The effects of arginine:glycine amidinotransferase deficiency are most severe in organs and tissues that require large amounts of energy, especially the brain.
More About This Health ConditionOther Names for This Gene
- AGAT
- AT
- GATM_HUMAN
- glycine amidinotransferase (L-arginine:glycine amidinotransferase)
- glycine amidinotransferase, mitochondrial
- glycine amidinotransferase, mitochondrial precursor
- L-arginine:glycine amidinotransferase
- transamidinase
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Beard E, Braissant O. Synthesis and transport of creatine in the CNS: importance for cerebral functions. J Neurochem. 2010 Oct;115(2):297-313. doi: 10.1111/j.1471-4159.2010.06935.x. Epub 2010 Aug 25. Citation on PubMed
- Braissant O, Henry H, Beard E, Uldry J. Creatine deficiency syndromes and the importance of creatine synthesis in the brain. Amino Acids. 2011 May;40(5):1315-24. doi: 10.1007/s00726-011-0852-z. Epub 2011 Mar 10. Citation on PubMed
- Item CB, Stockler-Ipsiroglu S, Stromberger C, Muhl A, Alessandri MG, Bianchi MC, Tosetti M, Fornai F, Cioni G. Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. Am J Hum Genet. 2001 Nov;69(5):1127-33. doi: 10.1086/323765. Epub 2001 Sep 10. Citation on PubMed or Free article on PubMed Central
- Morris SM Jr. Enzymes of arginine metabolism. J Nutr. 2004 Oct;134(10 Suppl):2743S-2747S; discussion 2765S-2767S. doi: 10.1093/jn/134.10.2743S. Citation on PubMed
- Nasrallah F, Feki M, Kaabachi N. Creatine and creatine deficiency syndromes: biochemical and clinical aspects. Pediatr Neurol. 2010 Mar;42(3):163-71. doi: 10.1016/j.pediatrneurol.2009.07.015. Citation on PubMed
- Schulze A. Creatine deficiency syndromes. Mol Cell Biochem. 2003 Feb;244(1-2):143-50. Citation on PubMed
- Sykut-Cegielska J, Gradowska W, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S. Biochemical and clinical characteristics of creatine deficiency syndromes. Acta Biochim Pol. 2004;51(4):875-82. Citation on PubMed
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