NDUFS7
NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) | |||||||||||
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Identifiers | |||||||||||
Symbols | NDUFS7 ; FLJ45860; FLJ46880; MGC120002; PSST | ||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 11535 | ||||||||||
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RNA expression pattern | |||||||||||
File:PBB GE NDUFS7 211752 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) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase), also known as NDUFS7, is a human gene.[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.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. PMID 8125298.
- Hyslop SJ, Duncan AM, Pitkänen S, Robinson BH (1997). "Assignment of the PSST subunit gene of human mitochondrial complex I to chromosome 19p13". Genomics. 37 (3): 375–80. doi:10.1006/geno.1996.0572. PMID 8938450.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K; et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. PMID 9373149.
- 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.
- Triepels RH, van den Heuvel LP, Loeffen JL; et al. (1999). "Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.". Ann. Neurol. 45 (6): 787–90. PMID 10360771.
- Triepels RH, Hanson BJ, van den Heuvel LP; et al. (2001). "Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns". J. Biol. Chem. 276 (12): 8892–7. doi:10.1074/jbc.M009903200. PMID 11112787.
- Schuler F, Casida JE (2001). "Functional coupling of PSST and ND1 subunits in NADH:ubiquinone oxidoreductase established by photoaffinity labeling". Biochim. Biophys. Acta. 1506 (1): 79–87. PMID 11418099.
- 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.
- Ugalde C, Janssen RJ, van den Heuvel LP; et al. (2004). "Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency". Hum. Mol. Genet. 13 (6): 659–67. doi:10.1093/hmg/ddh071. PMID 14749350.
- Ricci JE, Muñoz-Pinedo C, Fitzgerald P; et al. (2004). "Disruption of mitochondrial function during apoptosis is mediated by caspase cleavage of the p75 subunit of complex I of the electron transport chain". Cell. 117 (6): 773–86. doi:10.1016/j.cell.2004.05.008. PMID 15186778.
- Lebon S, Rodriguez D, Bridoux D; et al. (2007). "A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome". Mol. Genet. Metab. 90 (4): 379–82. doi:10.1016/j.ymgme.2006.12.007. PMID 17275378.
- Lebon S, Minai L, Chretien D; et al. (2007). "A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome". Mol. Genet. Metab. 92 (1–2): 104–8. doi:10.1016/j.ymgme.2007.05.010. PMID 17604671.
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