NDUFS7

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
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
Wikidata
View/Edit Human

NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial, also knowns as NADH-ubiquinone oxidoreductase 20 kDa subunit, is an enzyme that in humans is encoded by the NDUFS7 gene. The NDUFS7 protein is a subunit of NADH dehydrogenase (ubiquinone), which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain.

Structure

The PSST subunit is highly conserved across evolutionary distances. Crystal structures and mutational studies indicate that it is one of the ubiquinone binding sites of Complex I, together with the TYKY (NDUFS8) subunit.

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. doi:10.1086/302432. PMC 1377894. 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. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• 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. doi:10.1016/S0378-1119(97)00411-3. 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. doi:10.1002/1531-8249(199906)45:6<787::AID-ANA13>3.0.CO;2-6. 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. doi:10.1016/S0005-2728(01)00183-9. 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. PMC 139241. 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.