Aliases for SDHAF1 Gene
External Ids for SDHAF1 Gene
The succinate dehydrogenase (SDH) complex (or complex II) of the mitochondrial respiratory chain is composed of 4 individual subunits. The protein encoded by this gene resides in the mitochondria, and is essential for SDH assembly, but does not physically associate with the complex in vivo. Mutations in this gene are associated with SDH-defective infantile leukoencephalopathy (mitochondrial complex II deficiency).[provided by RefSeq, Mar 2010]
GeneCards Summary for SDHAF1 Gene
SDHAF1 (Succinate Dehydrogenase Complex Assembly Factor 1) is a Protein Coding gene. Diseases associated with SDHAF1 include mitochondrial complex ii deficiency and mitochondrial respiratory chain complex ii deficiency, sdhaf1-related.
UniProtKB/Swiss-Prot for SDHAF1 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. 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.