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Reviewed September 2014
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 an enzyme called dihydrolipoamide dehydrogenase. This enzyme forms one part (subunit), called the E3 component, of several groups of enzymes that work together (enzyme complexes). These complexes are essential for the breakdown of certain molecules to produce energy in cells.
Branched-chain alpha-keto acid dehydrogenase, or BCKD, is one of the enzyme complexes that include dihydrolipoamide dehydrogenase. The BCKD enzyme complex performs one step in the 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.
Dihydrolipoamide dehydrogenase is also part of the pyruvate dehydrogenase (PDH) 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. Dihydrolipoamide dehydrogenase performs one step of this chemical reaction. The conversion of pyruvate is essential to begin the series of chemical reactions that ultimately produces adenosine triphosphate (ATP), the cell's main energy source.
Dihydrolipoamide dehydrogenase is part of a third enzyme complex involved in cellular energy production. This complex, called alpha-ketoglutarate dehydrogenase (αKGDH), converts a molecule called α-ketoglutarate to another molecule called succinyl-CoA. Further steps in this process generate ATP for cells to use as energy.
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 107,891,107 to 107,921,198
(Homo sapiens Annotation Release 107, GRCh38.p2) (
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 107,891,107 to base pair 107,921,198 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 ; deficiency ; dehydrogenase ; 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 (11 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.