Disease-gene associations mined from literature

Literature associating SDHAF1 and hypomyelinating leukodystrophy 5

SDHAF1 [ENSP00000368165]

Succinate dehydrogenase assembly factor 1, 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. Promotes maturation of the iron-sulfur protein subunit SDHB of the SDH catalytic dimer, protecting it from the deleterious effects of oxidants. May act together with SDHAF3; Belongs to the complex I LYR family. SDHAF1 subfamily.

Synonyms:  SDHAF1,  SDHAF1p,  hSDHAF1,  A6NFY7,  A6NFY7p ...

Linkouts:  STRING  Pharos  UniProt  OMIM