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Normal Function
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.
Health Conditions Related to Genetic Changes
Pyruvate dehydrogenase deficiency
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.
More About This Health ConditionLeigh syndrome
MedlinePlus Genetics provides information about Leigh syndrome
More About This Health ConditionOther Names for This Gene
- dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex
- DLDBP
- E3BP
- lipoyl-containing pyruvate dehydrogenase complex component X
- ODPX_HUMAN
- OPDX
- proX
- pyruvate dehydrogenase complex, component X
- pyruvate dehydrogenase complex, E3-binding protein subunit
- pyruvate dehydrogenase complex, lipoyl-containing component X
- pyruvate dehydrogenase protein X component, mitochondrial
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Brown RM, Head RA, Brown GK. Pyruvate dehydrogenase E3 binding protein deficiency. Hum Genet. 2002 Feb;110(2):187-91. doi: 10.1007/s00439-001-0665-3. Epub 2002 Jan 22. Citation on PubMed
- Brown RM, Head RA, Morris AA, Raiman JA, Walter JH, Whitehouse WP, Brown GK. Pyruvate dehydrogenase E3 binding protein (protein X) deficiency. Dev Med Child Neurol. 2006 Sep;48(9):756-60. doi: 10.1017/S0012162206001617. Citation on PubMed
- 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
- 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
- Smolle M, Prior AE, Brown AE, Cooper A, Byron O, Lindsay JG. A new level of architectural complexity in the human pyruvate dehydrogenase complex. J Biol Chem. 2006 Jul 14;281(28):19772-80. doi: 10.1074/jbc.M601140200. Epub 2006 May 5. Citation on PubMed or Free article on PubMed Central
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