SDHAF2

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]

Succinate Dehydrogenase Complex Assembly Factor 2

Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol. Required for flavinylation (covalent attachment of FAD) of the flavoprotein subunit SDHA of the SDH catalytic dimer.

Biological Process mitochondrial electron transport, succinate to ubiquinoneManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process mitochondrial respiratory chain complex II assemblyManual Assertion Based On ExperimentIBA:GO_Central
Biological Process negative regulation of canonical Wnt signaling pathwayManual Assertion Based On ExperimentIGI:MGI
Biological Process negative regulation of epithelial to mesenchymal transitionManual Assertion Based On ExperimentIMP:MGI
Biological Process protein dephosphorylationManual Assertion Based On ExperimentIGI:MGI
Biological Process protein-FAD linkageManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process tricarboxylic acid cycleManual Assertion Based On ExperimentIBA:GO_Central

Mitochondrion matrix

Paragangliomas 2 (PGL2):
A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion. Paragangliomas can develop at various body sites, including the head, neck, thorax and abdomen. Most commonly, they are located in the head and neck region, specifically at the carotid bifurcation, the jugular foramen, the vagal nerve, and in the middle ear.