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Reviewed December 2008
What is the official name of the BCKDHB gene?
The official name of this gene is “branched chain keto acid dehydrogenase E1, beta polypeptide.”
BCKDHB is the gene's official symbol. The BCKDHB 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 BCKDHB gene?
The BCKDHB gene provides instructions for making one part, the beta subunit, of an enzyme complex (a group of enzymes that work together). This complex is called branched-chain alpha-keto acid dehydrogenase, or BCKD. Two beta subunits connect with two alpha subunits, which are produced from the BCKDHA gene, to form a critical part of the enzyme complex called the E1 component.
The BCKD enzyme complex is responsible for one step in the normal breakdown of three protein building blocks (amino acids). These amino acids—leucine, isoleucine, and valine—are obtained from the diet. They are present in many kinds of food, particularly protein-rich foods such as milk, meat, and eggs. The BCKD enzyme complex is active in mitochondria, which are specialized structures inside cells that serve as energy-producing centers. The breakdown of leucine, isoleucine, and valine produces molecules that can be used for energy.
How are changes in the BCKDHB gene related to health conditions?
Where is the BCKDHB gene located?
Cytogenetic Location: 6q14.1
Molecular Location on chromosome 6: base pairs 80,106,627 to 80,346,270
(Homo sapiens Annotation Release 107, GRCh38.p2) (
The BCKDHB gene is located on the long (q) arm of chromosome 6 at position 14.1.
More precisely, the BCKDHB gene is located from base pair 80,106,627 to base pair 80,346,270 on chromosome 6.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about BCKDHB?
You and your healthcare professional may find the following resources about BCKDHB 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 BCKDHB gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
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 BCKDHB?
acids ; amino acid ; arginine ; breakdown ; dehydrogenase ; developmental delay ; DNA ; enzyme ; gene ; isoleucine ; leucine ; mitochondria ; mutation ; nervous system ; precursor ; proline ; protein ; subunit ; toxic ; valine
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (7 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.