| Entrez gene ID | | 4720 |
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| Official gene symbol | | NDUFS2 |
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| Full name | | NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) |
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| Aliases | | ,CI-49, |
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| Gene summary | | The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of which are encoded by the mitochondrial genome, and the rest are the products of nuclear genes. The iron-sulfur protein fraction of complex I is made up of 7 subunits, including this gene product. Complex I catalyzes the NADH oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. |
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| Location | | Chromosome: 1 Locus: 1q23 |
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| Gene position | | 161169105 - 161184185 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 15081 bp |
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| Gene sequence |
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| OMIM ID | | 602985 |
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