Aliases for NDUFAF1 Gene
External Ids for NDUFAF1 Gene
Previous GeneCards Identifiers for NDUFAF1 Gene
This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) 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. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011]
GeneCards Summary for NDUFAF1 Gene
NDUFAF1 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 1) is a Protein Coding gene. Diseases associated with NDUFAF1 include Mitochondrial Complex I Deficiency, Nuclear Type 11 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 unfolded protein binding.
UniProtKB/Swiss-Prot Summary for NDUFAF1 Gene
Chaperone protein involved in early stages of the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).