Aliases for SDHAF2 Gene
External Ids for SDHAF2 Gene
Previous HGNC Symbols for SDHAF2 Gene
Previous GeneCards Identifiers for SDHAF2 Gene
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]
GeneCards Summary for SDHAF2 Gene
SDHAF2 (Succinate Dehydrogenase Complex Assembly Factor 2) is a Protein Coding gene. Diseases associated with SDHAF2 include Paragangliomas 2 and Hereditary Paraganglioma-Pheochromocytoma Syndromes. Among its related pathways are Glucose / Energy Metabolism. An important paralog of this gene is ENSG00000256591.
UniProtKB/Swiss-Prot Summary for SDHAF2 Gene
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.