URL of this page: https://medlineplus.gov/genetics/gene/pdhb/

PDHB gene

pyruvate dehydrogenase E1 beta subunit
From Genetics Home Reference. Learn more

Normal Function

The PDHB gene provides instructions for making a protein called E1 beta. E1 beta is a piece (a subunit) of a larger protein: two E1 beta proteins combine with two copies of another protein, called E1 alpha (produced from the PDHA1 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.

Health Conditions Related to Genetic Changes

Pyruvate dehydrogenase deficiency

Mutations in the PDHB gene are a very rare cause of pyruvate dehydrogenase deficiency. 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. These mutations change single protein building blocks (amino acids) in the E1 beta protein, resulting in an abnormal E1 beta protein that cannot function properly. The abnormal protein may not be able to interact with E1 alpha to form the E1 enzyme or with other factors needed for the E1 enzyme to perform its chemical reaction. A decrease of functional E1 beta leads to a reduction of pyruvate dehydrogenase complex 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 Condition

Leigh syndrome

MedlinePlus Genetics provides information about Leigh syndrome

More About This Health Condition

Other Names for This Gene

  • ODPB_HUMAN
  • PDHBD
  • PDHE1-B
  • PDHE1B
  • PHE1B
  • pyruvate dehydrogenase (lipoamide) beta
  • pyruvate dehydrogenase E1 component subunit beta, mitochondrial
  • pyruvate dehydrogenase, E1 beta polypeptide

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • Biochemistry (fifth edition, 2002): The Formation of Acetyl Coenzyme A from Pyruvate
  • Brown RM, Head RA, Boubriak II, Leonard JV, Thomas NH, Brown GK. Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency. Hum Genet. 2004 Jul;115(2):123-7. Epub 2004 May 11. Citation on PubMed
  • Okajima K, Korotchkina LG, Prasad C, Rupar T, Phillips JA 3rd, Ficicioglu C, Hertecant J, Patel MS, Kerr DS. Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency. Mol Genet Metab. 2008 Apr;93(4):371-80. doi: 10.1016/j.ymgme.2007.10.135. Epub 2008 Mar 4. 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. Citation on PubMed or Free article on PubMed Central
From Genetics Home Reference

Genetics Home Reference has merged with MedlinePlus. Genetics Home Reference content now can be found in the "Genetics" section of MedlinePlus. Learn more

The resources on this site should not be used as a substitute for professional medical care or advice. Users with questions about a personal health condition should consult with a qualified healthcare professional.