NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
Symbol
NDUFAF3
(may also be known as: None)
Organism
Human
Description
This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2009]
Orthologs
Symbol | Species | |
---|---|---|
CG5569 | Drosophila melanogaster | |
ndufaf3 | Danio rerio | |
Ndufaf3 | Mus musculus | |
Ndufaf3 | Rattus norvegicus |
Links to external resources
Changes associated with this gene
GO Terms
GO ID | GO Term | GO Category |
---|---|---|
GO:0032981 | mitochondrial respiratory chain complex I assembly | biological_process |
GO:0005634 | nucleus | cellular_component |
GO:0005739 | mitochondrion | cellular_component |
GO:0005743 | mitochondrial inner membrane | cellular_component |
GO:0016020 | membrane | cellular_component |
GO:0005515 | protein binding | molecular_function |