NDUFB6
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa | |||||||||||
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Identifiers | |||||||||||
Symbols | NDUFB6 ; B17; CI; MGC13675 | ||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 1864 | ||||||||||
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RNA expression pattern | |||||||||||
File:PBB GE NDUFB6 203613 s at tn.png | |||||||||||
More reference expression data | |||||||||||
Orthologs | |||||||||||
Template:GNF Ortholog box | |||||||||||
Species | Human | Mouse | |||||||||
Entrez | n/a | n/a | |||||||||
Ensembl | n/a | n/a | |||||||||
UniProt | n/a | n/a | |||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||
RefSeq (protein) | n/a | n/a | |||||||||
Location (UCSC) | n/a | n/a | |||||||||
PubMed search | n/a | n/a |
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa, also known as NDUFB6, is a human gene.[1]
The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified.[1]
References
Further reading
- Smeitink J, van den Heuvel L (1999). "Human mitochondrial complex I in health and disease". Am. J. Hum. Genet. 64 (6): 1505–10. PMID 10330338.
- Earley FG, Ragan CI (1981). "Identification of the subunits of bovine heart mitochondrial NADH dehydrogenase that are exposed to the phospholipid bilayer by photo-labelling with 5-iodonaphth-1-yl azide". Biochem. J. 191 (2): 429–36. PMID 7236204.
- Smeitink J, Loeffen J, Smeets R; et al. (1998). "Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I.". Hum. Genet. 103 (2): 245–50. PMID 9760212.
- Emahazion T, Beskow A, Gyllensten U, Brookes AJ (1998). "Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain". Cytogenet. Cell Genet. 82 (1–2): 115–9. PMID 9763677.
- Loeffen JL, Triepels RH, van den Heuvel LP; et al. (1999). "cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed". Biochem. Biophys. Res. Commun. 253 (2): 415–22. doi:10.1006/bbrc.1998.9786. PMID 9878551.
- Zhang QH, Ye M, Wu XY; et al. (2001). "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells". Genome Res. 10 (10): 1546–60. PMID 11042152.
- Bénit P, Chretien D, Kadhom N; et al. (2001). "Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency". Am. J. Hum. Genet. 68 (6): 1344–52. PMID 11349233.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Humphray SJ, Oliver K, Hunt AR; et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369–74. doi:10.1038/nature02465. PMID 15164053.
- Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
- Vogel RO, Dieteren CE, van den Heuvel LP; et al. (2007). "Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits". J. Biol. Chem. 282 (10): 7582–90. doi:10.1074/jbc.M609410200. PMID 17209039.
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