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Reviewed July 2012
What is the official name of the DLD gene?
The official name of this gene is “dihydrolipoamide dehydrogenase.”
DLD is the gene's official symbol. The DLD 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 DLD gene?
The DLD gene provides instructions for making a protein called dihydrolipoamide dehydrogenase. This protein is a part (a subunit) of several enzyme complexes (groups of enzymes that work together). These complexes are essential for the breakdown of certain molecules to produce energy in cells. Dihydrolipoamide dehydrogenase forms a subunit called the E3 component that is shared by several enzyme complexes.
Branched-chain alpha-keto acid dehydrogenase, or BCKD, is one of the enzyme complexes that include the E3 component. The BCKD enzyme complex performs 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 breakdown of these amino acids produces molecules that can be used for energy.
The E3 component is also part of the pyruvate dehydrogenase complex. This enzyme complex plays an important role in the production of energy for cells. It converts a molecule called pyruvate, which is formed from the breakdown of carbohydrates, into another molecule called acetyl-CoA. The E3 component 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 DLD gene related to health conditions?
Where is the DLD gene located?
Cytogenetic Location: 7q31-q32
Molecular Location on chromosome 7: base pairs 107,891,140 to 107,921,197
The DLD gene is located on the long (q) arm of chromosome 7 between positions 31 and 32.
More precisely, the DLD gene is located from base pair 107,891,140 to base pair 107,921,197 on chromosome 7.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about DLD?
You and your healthcare professional may find the following resources about DLD 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 DLD 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 DLD?
acidosis ; acids ; adenosine triphosphate ; ATP ; breakdown ; cell ; CoA ; complication ; deficiency ; dehydrogenase ; developmental delay ; enzyme ; gene ; glycine ; isoleucine ; lactic acid ; lactic acidosis ; leucine ; molecule ; nervous system ; neurological ; 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 (9 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.