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DLAT

DLAT

Reviewed July 2012

What is the official name of the DLAT gene?

The official name of this gene is “dihydrolipoamide S-acetyltransferase.”

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

The DLAT gene provides instructions for making the E2 enzyme (also known as dihydrolipoamide acetyltransferase), which is part of a large group of proteins called the pyruvate dehydrogenase complex. This complex comprises multiple copies of three enzymes, including E2, and several related proteins. The E2 enzyme is the core to which the other proteins attach to form the 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 E2 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 DLAT gene related to health conditions?

pyruvate dehydrogenase deficiency - caused by mutations in the DLAT gene

At least two mutations in the DLAT gene have been identified in individuals with pyruvate dehydrogenase deficiency; mutation of the DLAT gene is a very rare cause of this condition. Pyruvate dehydrogenase deficiency is characterized by a potentially life-threatening buildup of a chemical called lactic acid in the body (lactic acidosis), delayed development, and neurological problems.

Mutations in the DLAT gene lead to an abnormal E2 enzyme and reduced activity of the pyruvate dehydrogenase complex, although the mechanism is unclear. With decreased activity 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 DLAT gene located?

Cytogenetic Location: 11q23.1

Molecular Location on chromosome 11: base pairs 112,024,813 to 112,064,277

The DLAT gene is located on the long (q) arm of chromosome 11 at position 23.1.

The DLAT gene is located on the long (q) arm of chromosome 11 at position 23.1.

More precisely, the DLAT gene is located from base pair 112,024,813 to base pair 112,064,277 on chromosome 11.

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

Where can I find additional information about DLAT?

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

  • dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex
  • dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial
  • DLTA
  • E2 component of pyruvate dehydrogenase complex
  • 70 kDa mitochondrial autoantigen of primary biliary cirrhosis
  • M2 antigen complex 70 kDa subunit
  • ODP2_HUMAN
  • PBC
  • PDCE2
  • PDC-E2
  • pyruvate dehydrogenase complex component E2

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 DLAT?

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

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (5 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: July 21, 2014