| UniProt Protein Function: | NDUFAF3: Essential factor for the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Defects in NDUFAF3 are a cause of mitochondrial complex I deficiency (MT-C1D). A disorder of the mitochondrial respiratory chain that causes a wide range of clinical disorders, from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. 2 isoforms of the human protein are produced by alternative splicing.Protein type: MitochondrialChromosomal Location of Human Ortholog: 3p21.31Cellular Component: mitochondrial inner membrane; nucleusMolecular Function: protein bindingBiological Process: mitochondrial respiratory chain complex I assemblyDisease: Mitochondrial Complex I Deficiency |
| UniProt Protein Details: | |
| NCBI 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, Jul 2009] |
| UniProt Code: | Q9BU61 |
| NCBI GenInfo Identifier: | 74733183 |
| NCBI Gene ID: | 25915 |
| NCBI Accession: | Q9BU61.1 |
| UniProt Secondary Accession: | Q9BU61 |
| UniProt Related Accession: | Q9BU61 |
| Molecular Weight: | 13,842 Da |
| NCBI Full Name: | NADH dehydrogenase |
| NCBI Synonym Full Names: | NADH:ubiquinone oxidoreductase complex assembly factor 3 |
| NCBI Official Symbol: | NDUFAF3Â Â |
| NCBI Official Synonym Symbols: | 2P1; E3-3; C3orf60Â Â |
| NCBI Protein Information: | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 |
| UniProt Protein Name: | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 |
| UniProt Synonym Protein Names: | |
| Protein Family: | NADH dehydrogenase |
| UniProt Gene Name: | NDUFAF3Â Â |
| UniProt Entry Name: | NDUF3_HUMAN |
