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Genetics Home Reference: your guide to understanding genetic conditions
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GATM

Reviewed June 2011

What is the official name of the GATM gene?

The official name of this gene is “glycine amidinotransferase (L-arginine:glycine amidinotransferase).”

GATM is the gene's official symbol. The GATM gene is also known by other names, listed below.

What is the normal function of the GATM gene?

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.

How are changes in the GATM gene related to health conditions?

arginine:glycine amidinotransferase deficiency - caused by mutations in the GATM gene

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.

Where is the GATM gene located?

Cytogenetic Location: 15q21.1

Molecular Location on chromosome 15: base pairs 45,361,123 to 45,378,781

The GATM gene is located on the long (q) arm of chromosome 15 at position 21.1.

The GATM gene is located on the long (q) arm of chromosome 15 at position 21.1.

More precisely, the GATM gene is located from base pair 45,361,123 to base pair 45,378,781 on chromosome 15.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about GATM?

You and your healthcare professional may find the following resources about GATM helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the GATM gene or gene products?

  • AGAT
  • AT
  • GATM_HUMAN
  • glycine amidinotransferase, mitochondrial
  • glycine amidinotransferase, mitochondrial precursor
  • L-arginine:glycine amidinotransferase
  • transamidinase

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding GATM?

acids ; arginine ; compound ; creatine ; deficiency ; disability ; enzyme ; gene ; glycine ; L-arginine ; methionine ; precursor ; protein ; synthesis

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Béard 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. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20796169?dopt=Abstract)
  • Braissant O, Henry H, Béard 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. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21390529?dopt=Abstract)
  • Item CB, Stöckler-Ipsiroglu S, Stromberger C, Mühl A, Alessandrì 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. Epub 2001 Sep 10. (http://www.ncbi.nlm.nih.gov/pubmed/11555793?dopt=Abstract)
  • Morris SM Jr. Enzymes of arginine metabolism. J Nutr. 2004 Oct;134(10 Suppl):2743S-2747S; discussion 2765S-2767S. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15465778?dopt=Abstract)
  • 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. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20159424?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2628)
  • OMIM: L-ARGININE:GLYCINE AMIDINOTRANSFERASE (http://omim.org/entry/602360)
  • Schulze A. Creatine deficiency syndromes. Mol Cell Biochem. 2003 Feb;244(1-2):143-50. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12701824?dopt=Abstract)
  • Sykut-Cegielska J, Gradowska W, Mercimek-Mahmutoglu S, Stöckler-Ipsiroglu S. Biochemical and clinical characteristics of creatine deficiency syndromes. Acta Biochim Pol. 2004;51(4):875-82. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15625559?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: June 2011
Published: August 25, 2014