Aliases for NDUFAF1 Gene
- NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 1 2 3 5
- NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 1 2 3
- CIA30 3 4
- NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, Assembly Factor 1 3
- NADH-Ubiquinone Oxidoreductase 1 Alpha Subcomplex, Assembly Factor 1 3
- NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Assembly Factor 1 4
- CGI-65 3
- CGI65 3
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 fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex i deficiency and mitochondrial complex i deficiency. 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 unfolded protein binding.
UniProtKB/Swiss-Prot for NDUFAF1 Gene
Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).