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Reviewed June 2011
What is the official name of the GAMT gene?
The official name of this gene is “guanidinoacetate N-methyltransferase.”
GAMT is the gene's official symbol. The GAMT gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the GAMT gene?
The GAMT gene provides instructions for making the enzyme guanidinoacetate methyltransferase, which is active (expressed) mainly in the liver. 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, guanidinoacetate methyltransferase controls the second step of this process. In this step, creatine is produced from another compound called guanidinoacetate. Creatine is needed for the body to store and use energy properly. It is involved in providing energy for muscle contraction, and is also important in nervous system functioning.
In addition to its role in creatine synthesis, the guanidinoacetate methyltransferase enzyme is thought to help activate a process called fatty acid oxidation. This process provides an energy source for cells during times of stress when their normal fuel, the simple sugar glucose, is scarce.
How are changes in the GAMT gene related to health conditions?
Where is the GAMT gene located?
Cytogenetic Location: 19p13.3
Molecular Location on chromosome 19: base pairs 1,397,025 to 1,401,569
The GAMT gene is located on the short (p) arm of chromosome 19 at position 13.3.
More precisely, the GAMT gene is located from base pair 1,397,025 to base pair 1,401,569 on chromosome 19.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about GAMT?
You and your healthcare professional may find the following resources about GAMT 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 GAMT gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding GAMT?
acids ; amino acid ; compound ; contraction ; deficiency ; enzyme ; expressed ; gene ; glucose ; glycine ; methyltransferase ; mutation ; nervous system ; oxidation ; protein ; serine ; simple sugar ; stress ; synthesis
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (13 links)
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? in the Handbook.