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Genetics Home Reference: your guide to understanding genetic conditions
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PDHB

Reviewed July 2012

What is the official name of the PDHB gene?

The official name of this gene is “pyruvate dehydrogenase (lipoamide) beta.”

PDHB is the gene's official symbol. The PDHB gene is also known by other names, listed below.

What is the normal function of the PDHB gene?

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.

How are changes in the PDHB gene related to health conditions?

pyruvate dehydrogenase deficiency - caused by mutations in the PDHB gene

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.

Where is the PDHB gene located?

Cytogenetic Location: 3p21.1-p14.2

Molecular Location on chromosome 3: base pairs 58,427,629 to 58,433,851

The PDHB gene is located on the short (p) arm of chromosome 3 between positions 21.1 and 14.2.

The PDHB gene is located on the short (p) arm of chromosome 3 between positions 21.1 and 14.2.

More precisely, the PDHB gene is located from base pair 58,427,629 to base pair 58,433,851 on chromosome 3.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about PDHB?

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

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

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding PDHB?

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

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Biochemistry (fifth edition, 2002): The Formation of Acetyl Coenzyme A from Pyruvate (http://www.ncbi.nlm.nih.gov/books/NBK22427/)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/15138885?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/5162)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/18164639?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/20160912?dopt=Abstract)
  • OMIM: PYRUVATE DEHYDROGENASE, BETA POLYPEPTIDE (http://omim.org/entry/179060)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: July 2012
Published: December 22, 2014