Aliases for NDUFAF5 Gene
- NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 5 2 3 5
- NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Assembly Factor 5 3 4
- NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 5 2 3
- Putative Methyltransferase NDUFAF5 3 4
- C20orf7 3 4
- Probable Methyltransferase C20orf7, Mitochondrial 3
- Arginine-Hydroxylase NDUFAF5, Mitochondrial 3
External Ids for NDUFAF5 Gene
Previous HGNC Symbols for NDUFAF5 Gene
The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
GeneCards Summary for NDUFAF5 Gene
NDUFAF5 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 5) is a Protein Coding gene. Diseases associated with NDUFAF5 include Mitochondrial Complex I Deficiency and Leigh Syndrome With Leukodystrophy. 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 methyltransferase activity.
UniProtKB/Swiss-Prot for NDUFAF5 Gene
Arginine hydroxylase involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) at early stages (PubMed:18940309, PubMed:27226634). Acts by mediating hydroxylation of Arg-111 of NDUFS7 (PubMed:27226634). May also have methyltransferase activity (Probable).