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 Metabolism and Metformin Pathway, Pharmacodynamics. 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.