Sequence in raw or FASTA format:
SDHAF2 succinate dehydrogenase complex assembly factor 2 [Homo sapiens (human)]
|Entrez Gene ID||54949|
|Full Name||succinate dehydrogenase complex assembly factor 2|
|Synonyms||C11orf79, PGL2, SDH5|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||This gene encodes a mitochondrial protein needed for the flavination of a succinate dehydrogenase complex subunit required for activity of the complex. Mutations in this gene are associated with paraganglioma.[provided by RefSeq, Jul 2010].|
Paragangliomas 2, 601650 (3)
|HUMAN_PWY-5690||TCA cycle II (eukaryotic)|
|Homo sapiens (human)||SDHAF2||NP_060311.1|
|Pan troglodytes (chimpanzee)||PPP1R32||NP_001238783.1|
|Macaca mulatta (Rhesus monkey)||SDHAF2||XP_001082359.2|
|Canis lupus familiaris (dog)||SDHAF2||XP_533273.2|
|Bos taurus (cattle)||SDHAF2||NP_001070513.1|
|Mus musculus (house mouse)||Sdhaf2||NP_079609.2|
|Rattus norvegicus (Norway rat)||Sdhaf2||NP_001008372.1|
|Gallus gallus (chicken)||LOC426015||NP_001264818.1|
|Danio rerio (zebrafish)||sdhaf2||NP_001076333.1|
|Drosophila melanogaster (fruit fly)||CG14757||NP_610363.1|
|Drosophila melanogaster (fruit fly)||CG12895||NP_001260868.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||sdhaf2||XP_002937676.1|
|GO:0006121||mitochondrial electron transport, succinate to ubiquinone||IMP|
|GO:0010719||negative regulation of epithelial to mesenchymal transition||IMP|
|GO:0090090||negative regulation of canonical Wnt signaling pathway||IGI|
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.
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