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Genetics Home Reference: your guide to understanding genetic conditions
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AMPD1

Reviewed July 2008

What is the official name of the AMPD1 gene?

The official name of this gene is “adenosine monophosphate deaminase 1.”

AMPD1 is the gene's official symbol. The AMPD1 gene is also known by other names, listed below.

What is the normal function of the AMPD1 gene?

The AMPD1 gene provides instructions for producing an enzyme called adenosine monophosphate deaminase. This enzyme is found in the muscles used for movement (skeletal muscles), where it plays a role in the production of energy. Specifically, this enzyme converts a molecule called adenosine monophosphate (AMP) to a molecule called inosine monophosphate (IMP) as part of a process that produces energy within muscle cells. Muscle cells need energy to function and move the body.

How are changes in the AMPD1 gene related to health conditions?

adenosine monophosphate deaminase deficiency - caused by mutations in the AMPD1 gene

At least eight mutations in the AMPD1 gene have been found to cause AMP deaminase deficiency. Most cases are caused by a mutation that results in a premature stop signal in the instructions for making AMP deaminase (written as Gly12Ter or Q12X). The resulting enzyme is abnormally short and cannot fulfill its role in the process of energy production in skeletal muscle cells. A lack of functional enzyme can cause muscles to tire easily during physical activity, leading to muscle weakness or pain in some people with AMP deaminase deficiency. Other people with mutations in this gene never experience any signs and symptoms associated with AMP deaminase deficiency.

Where is the AMPD1 gene located?

Cytogenetic Location: 1p13

Molecular Location on chromosome 1: base pairs 114,673,097 to 114,695,617

The AMPD1 gene is located on the short (p) arm of chromosome 1 at position 13.

The AMPD1 gene is located on the short (p) arm of chromosome 1 at position 13.

More precisely, the AMPD1 gene is located from base pair 114,673,097 to base pair 114,695,617 on chromosome 1.

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 AMPD1?

You and your healthcare professional may find the following resources about AMPD1 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 AMPD1 gene or gene products?

  • Adenosine monophosphate deaminase-1 (muscle)
  • AMPD1_HUMAN
  • AMP deaminase
  • MAD
  • MADA

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 AMPD1?

deficiency ; enzyme ; gene ; molecule ; muscle cells ; mutation ; skeletal muscle

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

References

  • OMIM: ADENOSINE MONOPHOSPHATE DEAMINASE 1 (http://omim.org/entry/102770)
  • Hancock CR, Brault JJ, Terjung RL. Protecting the cellular energy state during contractions: role of AMP deaminase. J Physiol Pharmacol. 2006 Nov;57 Suppl 10:17-29. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17242488?dopt=Abstract)
  • Isackson PJ, Bujnicki H, Harding CO, Vladutiu GD. Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene. Mol Genet Metab. 2005 Sep-Oct;86(1-2):250-6. Epub 2005 Jul 22. (http://www.ncbi.nlm.nih.gov/pubmed/16040263?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/270)
  • Toyama K, Morisaki H, Kitamura Y, Gross M, Tamura T, Nakahori Y, Vance JM, Speer M, Kamatani N, Morisaki T. Haplotype analysis of human AMPD1 gene: origin of common mutant allele. J Med Genet. 2004 Jun;41(6):e74. Erratum in: J Med Genet. 2005 Mar;42(3):288. (http://www.ncbi.nlm.nih.gov/pubmed/15173240?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: July 2008
Published: October 27, 2014