NDUFS7

From Wikipedia, the free encyclopedia

NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)

Identifiers

NDUFS7; FLJ45860; FLJ46880; MGC120002; PSST

External IDs

OMIM: 601825 MGI: 1922656 HomoloGene: 11535

Gene ontology
Molecular Function:	• NADH dehydrogenase activity • iron ion binding • NADH dehydrogenase (ubiquinone) activity • oxidoreductase activity • metal ion binding • 4 iron, 4 sulfur cluster binding
Cellular Component:	• mitochondrion
Biological Process:	• mitochondrial electron transport, NADH to ubiquinone

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_024407 (mRNA)
NP_077718 (protein)

NM_029272 (mRNA)
NP_083548 (protein)

Location

Chr 19: 1.33 - 1.35 Mb

Chr 10: 79.65 - 79.66 Mb

Pubmed search

[1]

[2]

NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase), also known as NDUFS7, is a human gene.^[1]

[edit] References

^ Entrez Gene: NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase).

[edit] 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.