Aliases for NDUFS4 Gene
External Ids for NDUFS4 Gene
Previous GeneCards Identifiers for NDUFS4 Gene
This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
GeneCards Summary for NDUFS4 Gene
NDUFS4 (NADH:Ubiquinone Oxidoreductase Subunit S4) is a Protein Coding gene. Diseases associated with NDUFS4 include Leigh Syndrome and Mitochondrial Complex I Deficiency. Among its related pathways are Metformin Pathway, Pharmacodynamics and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include NADH dehydrogenase (ubiquinone) activity and oxidoreductase activity, acting on NAD(P)H.
UniProtKB/Swiss-Prot for NDUFS4 Gene
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. 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.