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Reviewed October 2012
What is the official name of the SDHD gene?
The official name of this gene is “succinate dehydrogenase complex, subunit D, integral membrane protein.”
SDHD is the gene's official symbol. The SDHD 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 SDHD gene?
The SDHD gene provides instructions for making one of four subunits of the succinate dehydrogenase (SDH) enzyme. The SDH enzyme plays a critical role in mitochondria, which are structures inside cells that convert the energy from food into a form that cells can use. The SDHD protein helps anchor the SDH enzyme in the mitochondrial membrane.
Within mitochondria, the SDH enzyme links two important pathways in energy conversion: the citric acid cycle (or Krebs cycle) and oxidative phosphorylation. As part of the citric acid cycle, the SDH enzyme converts a compound called succinate to another compound called fumarate. Negatively charged particles called electrons are released during this reaction. The electrons are transferred through the SDH subunits, including the SDHD protein, to the oxidative phosphorylation pathway. In oxidative phosphorylation, the electrons create an electrical charge that provides energy for the production of adenosine triphosphate (ATP), the cell's main energy source.
Succinate, the compound on which the SDH enzyme acts, is an oxygen sensor in the cell and can help turn on specific pathways that stimulate cells to grow in a low-oxygen environment (hypoxia). In particular, succinate stabilizes a protein called hypoxia-inducible factor (HIF) by preventing a reaction that would allow HIF to be broken down. HIF controls several important genes involved in cell division and the formation of new blood vessels in a hypoxic environment.
The SDHD gene is a tumor suppressor, which means it prevents cells from growing and dividing in an uncontrolled way.
Does the SDHD gene share characteristics with other genes?
The SDHD gene belongs to a family of genes called mitochondrial respiratory chain complex (mitochondrial respiratory chain complex).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the SDHD gene related to health conditions?
Genetics Home Reference provides information about gastrointestinal stromal tumor, which is also associated with changes in the SDHD gene.
Where is the SDHD gene located?
Cytogenetic Location: 11q23
Molecular Location on chromosome 11: base pairs 112,086,823 to 112,095,800
The SDHD gene is located on the long (q) arm of chromosome 11 at position 23.
More precisely, the SDHD gene is located from base pair 112,086,823 to base pair 112,095,800 on chromosome 11.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SDHD?
You and your healthcare professional may find the following resources about SDHD 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 SDHD 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 SDHD?
acids ; adenosine triphosphate ; ATP ; benign ; cancer ; cell ; cell division ; charged particles ; compound ; dehydrogenase ; enzyme ; gastrointestinal ; gene ; hereditary ; hypoxia ; hypoxic ; inherited ; mitochondria ; mutation ; nervous system ; oxidative phosphorylation ; oxidoreductase ; oxygen ; pheochromocytoma ; phosphorylation ; protein ; protein sequence ; somatic mutation ; subunit ; syndrome ; thyroid ; tumor ; ubiquinone
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (15 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.