Aliases for NDUFAF2 Gene
External Ids for NDUFAF2 Gene
Previous HGNC Symbols for NDUFAF2 Gene
Previous GeneCards Identifiers for NDUFAF2 Gene
NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency. [provided by RefSeq, Jul 2008]
GeneCards Summary for NDUFAF2 Gene
NDUFAF2 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 2) is a Protein Coding gene. Diseases associated with NDUFAF2 include Mitochondrial Complex I Deficiency and Leigh Syndrome. Among its related pathways are Validated targets of C-MYC transcriptional activation and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.
UniProtKB/Swiss-Prot for NDUFAF2 Gene
Acts as a molecular chaperone for mitochondrial complex I assembly.