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Normal Function
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.
Health Conditions Related to Genetic Changes
Pyruvate dehydrogenase deficiency
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.
More About This Health ConditionLeigh syndrome
MedlinePlus Genetics provides information about Leigh syndrome
More About This Health ConditionOther Names for This Gene
- 70 kDa mitochondrial autoantigen of primary biliary cirrhosis
- dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex
- dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial
- DLTA
- E2 component of pyruvate dehydrogenase complex
- M2 antigen complex 70 kDa subunit
- ODP2_HUMAN
- PBC
- PDC-E2
- PDCE2
- pyruvate dehydrogenase complex component E2
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Ganetzky R, McCormick EM, Falk MJ. Primary Pyruvate Dehydrogenase Complex Deficiency Overview. 2021 Jun 17. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from http://www.ncbi.nlm.nih.gov/books/NBK571223/ Citation on PubMed
- Head RA, Brown RM, Zolkipli Z, Shahdadpuri R, King MD, Clayton PT, Brown GK. Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency. Ann Neurol. 2005 Aug;58(2):234-41. doi: 10.1002/ana.20550. Citation on PubMed
- Patel MS, Korotchkina LG, Sidhu S. Interaction of E1 and E3 components with the core proteins of the human pyruvate dehydrogenase complex. J Mol Catal B Enzym. 2009 Nov 1;61(1-2):2-6. doi: 10.1016/j.molcatb.2009.05.001. Citation on PubMed or Free article on PubMed Central
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