|A service of the U.S. National Library of Medicine®|
On this page:
Reviewed June 2011
What is the official name of the SDHAF2 gene?
The official name of this gene is “succinate dehydrogenase complex assembly factor 2.”
SDHAF2 is the gene's official symbol. The SDHAF2 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 SDHAF2 gene?
The SDHAF2 gene provides instructions for making a protein that interacts with the succinate dehydrogenase (SDH) enzyme. The SDHAF2 protein helps a molecule called FAD attach to the SDH enzyme. FAD is called a cofactor because it helps the enzyme carry out its function. The FAD cofactor is required for SDH enzyme activity.
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. 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.
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 SDHAF2 gene is a tumor suppressor, which means it prevents cells from growing and dividing in an uncontrolled way.
How are changes in the SDHAF2 gene related to health conditions?
Where is the SDHAF2 gene located?
Cytogenetic Location: 11q12.2
Molecular Location on chromosome 11: base pairs 61,430,124 to 61,446,766
The SDHAF2 gene is located on the long (q) arm of chromosome 11 at position 12.2.
More precisely, the SDHAF2 gene is located from base pair 61,430,124 to base pair 61,446,766 on chromosome 11.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SDHAF2?
You and your healthcare professional may find the following resources about SDHAF2 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 SDHAF2 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 SDHAF2?
amino acid ; benign ; cell ; cell division ; cofactor ; compound ; dehydrogenase ; enzyme ; gene ; glycine ; mitochondria ; molecule ; mutation ; nervous system ; oxidative phosphorylation ; oxygen ; pheochromocytoma ; phosphorylation ; protein ; subunit ; tumor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (8 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.