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PDHX

PDHX

Reviewed July 2012

What is the official name of the PDHX gene?

The official name of this gene is “pyruvate dehydrogenase complex, component X.”

PDHX is the gene's official symbol. The PDHX 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 PDHX gene?

The PDHX gene provides instructions for making a protein called E3 binding protein, which is part of a large group of proteins known as the pyruvate dehydrogenase complex. This complex is made up of several enzymes, including one called E3, and other proteins. E3 binding protein attaches E3 to the complex and provides the correct structure for the complex to perform its function.

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 enzyme converts a molecule called pyruvate, which is formed from the breakdown of carbohydrates, into another molecule called acetyl-CoA. This conversion 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 PDHX gene related to health conditions?

pyruvate dehydrogenase deficiency - caused by mutations in the PDHX gene

Mutations in the PDHX gene cause pyruvate dehydrogenase deficiency in a small number of people. This condition is characterized by a potentially life-threatening buildup of a chemical called lactic acid in the body (lactic acidosis), delayed development, and neurological problems. PDHX gene mutations associated with pyruvate dehydrogenase deficiency result in the complete absence of E3 binding protein. Loss of this protein impairs the binding of the E3 enzyme to the pyruvate dehydrogenase complex, which leads to a reduction of the complex's activity. With decreased function of this complex, pyruvate builds up and is converted, in another chemical reaction, to lactic acid, causing lactic acidosis. In addition, the production of cellular energy is diminished. The brain, which is especially dependent on this form of energy, is severely affected, resulting in the neurological problems associated with pyruvate dehydrogenase deficiency.

Where is the PDHX gene located?

Cytogenetic Location: 11p13

Molecular Location on chromosome 11: base pairs 34,916,129 to 34,996,127

The PDHX gene is located on the short (p) arm of chromosome 11 at position 13.

The PDHX gene is located on the short (p) arm of chromosome 11 at position 13.

More precisely, the PDHX gene is located from base pair 34,916,129 to base pair 34,996,127 on chromosome 11.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about PDHX?

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

  • dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex
  • DLDBP
  • E3BP
  • lipoyl-containing pyruvate dehydrogenase complex component X
  • ODPX_HUMAN
  • OPDX
  • proX
  • pyruvate dehydrogenase complex, E3-binding protein subunit
  • pyruvate dehydrogenase complex, lipoyl-containing component X
  • pyruvate dehydrogenase protein X component, mitochondrial

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 PDHX?

acidosis ; adenosine triphosphate ; ATP ; breakdown ; cell ; CoA ; deficiency ; dehydrogenase ; enzyme ; gene ; lactic acid ; lactic acidosis ; molecule ; neurological ; protein ; subunit

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.

 
Reviewed: July 2012
Published: November 24, 2014