Entrez gene ID | | 25915 |
Official gene symbol | | NDUFAF3 |
Full name | | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3 |
Aliases | | ,2P1,C3orf60,DKFZp564J0123,E3-3,MGC10527, |
Gene summary | | 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] |
Location | | Chromosome: 3 Locus: 3p21.31 |
Gene position | | 49057908 - 49060928 Map Viewer |
Gene orientation | | plus |
Gene size | | 3021 bp |
Gene sequence |
| |
OMIM ID | | 612911 |