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Reviewed December 2008
What is the official name of the DBT gene?
The official name of this gene is “dihydrolipoamide branched chain transacylase E2.”
DBT is the gene's official symbol. The DBT 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 DBT gene?
The DBT gene provides instructions for making part of an enzyme complex (a group of enzymes that work together) called branched-chain alpha-keto acid dehydrogenase, or BCKD. Specifically, the protein produced from the DBT gene forms a critical part of the enzyme complex called the E2 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 DBT gene related to health conditions?
Where is the DBT gene located?
Cytogenetic Location: 1p31
Molecular Location on chromosome 1: base pairs 100,652,477 to 100,715,408
The DBT gene is located on the short (p) arm of chromosome 1 at position 31.
More precisely, the DBT gene is located from base pair 100,652,477 to base pair 100,715,408 on chromosome 1.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about DBT?
You and your healthcare professional may find the following resources about DBT 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 DBT 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 DBT?
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.