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Reviewed July 2012
What is the official name of the PDHA1 gene?
The official name of this gene is “pyruvate dehydrogenase (lipoamide) alpha 1.”
PDHA1 is the gene's official symbol. The PDHA1 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 PDHA1 gene?
The PDHA1 gene provides instructions for making a protein called E1 alpha. The E1 alpha protein is a piece (a subunit) of a larger protein: two E1 alpha proteins combine with two copies of another protein called E1 beta (produced from the PDHB gene) to form the E1 enzyme. This enzyme, also known as pyruvate dehydrogenase, is a component of a group of proteins called the pyruvate dehydrogenase complex.
The pyruvate dehydrogenase complex plays an important role in the pathways that convert the energy from food into a form that cells can use. This complex converts a molecule called pyruvate, which is formed from the breakdown of carbohydrates, into another molecule called acetyl-CoA. The E1 enzyme performs one part of this chemical reaction. The conversion of pyruvate is essential to begin the series of chemical reactions that produces adenosine triphosphate (ATP), the cell's main energy source.
How are changes in the PDHA1 gene related to health conditions?
Genetics Home Reference provides information about Leigh syndrome, which is also associated with changes in the PDHA1 gene.
Where is the PDHA1 gene located?
Cytogenetic Location: Xp22.1
Molecular Location on the X chromosome: base pairs 19,343,893 to 19,361,707
The PDHA1 gene is located on the short (p) arm of the X chromosome at position 22.1.
More precisely, the PDHA1 gene is located from base pair 19,343,893 to base pair 19,361,707 on the X chromosome.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PDHA1?
You and your healthcare professional may find the following resources about PDHA1 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 PDHA1 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 PDHA1?
acidosis ; acids ; adenosine triphosphate ; ATP ; breakdown ; cell ; CoA ; deficiency ; dehydrogenase ; deletion ; DNA ; enzyme ; gene ; insertion ; lactic acid ; lactic acidosis ; molecule ; neurological ; protein ; subunit ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (7 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.