Aliases for NDUFAF2 Gene
- NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 2 2 3 5
- Myc-Induced Mitochondrial Protein 2 3 4
- NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, Assembly Factor 2 2 3
- NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Assembly Factor 2 3 4
- NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 2 2 3
- NDUFA12-Like Protein 3 4
- NDUFA12L 3 4
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, Nuclear Type 10 and Mitochondrial Complex I Deficiency, Nuclear Type 1. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. Gene Ontology (GO) annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.
UniProtKB/Swiss-Prot Summary for NDUFAF2 Gene
Acts as a molecular chaperone for mitochondrial complex I assembly (PubMed:16200211, PubMed:19384974). Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (PubMed:16200211, PubMed:27626371).