Aliases for NDUFAF4 Gene
External Ids for NDUFAF4 Gene
Previous HGNC Symbols for NDUFAF4 Gene
Previous GeneCards Identifiers for NDUFAF4 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 are a cause of mitochondrial complex I deficiency. [provided by RefSeq, Oct 2009]
GeneCards Summary for NDUFAF4 Gene
NDUFAF4 (NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 4) is a Protein Coding gene. Diseases associated with NDUFAF4 include mitochondrial complex i deficiency and leber hereditary optic neuropathy. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include calmodulin binding.
UniProtKB/Swiss-Prot for NDUFAF4 Gene
Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). May be involved in cell proliferation and survival of hormone-dependent tumor cells. May be a regulator of breast tumor cell invasion.