DISEASES

Disease-gene associations mined from literature

Literature associating SDHAF2 and pheochromocytoma

SDHAF2 [ENSP00000301761]

Succinate dehydrogenase assembly factor 2, mitochondrial; 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.

Synonyms:  SDHAF2,  SDHAF2p,  hSDHAF2,  F5H4T4,  F5H8E2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM