NDUFS8
| NDUFS8 | ||||||
|---|---|---|---|---|---|---|
| Identifiers | ||||||
| Aliases | NDUFS8, CI-23k, CI23KD, TYKY, NADH:ubiquinone oxidoreductase core subunit S8 | |||||
| External IDs | MGI: 2385079 HomoloGene: 1867 GeneCards: NDUFS8 | |||||
| RNA expression pattern | ||||||
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| More reference expression data | ||||||
| Orthologs | ||||||
| Species | Human | Mouse | ||||
| Entrez | ||||||
| Ensembl | ||||||
| UniProt | ||||||
| RefSeq (mRNA) | ||||||
| RefSeq (protein) | ||||||
| Location (UCSC) | Chr 11: 68.03 – 68.04 Mb | Chr 19: 3.91 – 3.91 Mb | ||||
| PubMed search | [1] | [2] | ||||
| Wikidata | ||||||
| View/Edit Human | View/Edit Mouse |
NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial also known as NADH-ubiquinone oxidoreductase 23 kDa subunit is an enzyme that in humans is encoded by the NDUFS8 gene.[3][4][5]
Function
This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from mitochondria. The encoded protein is involved in the binding of two of the six to eight iron-sulfur clusters of Complex I and, as such, is required in the electron transfer process.[5]
Clinical significance
Mutations in this gene have been associated with Leigh syndrome.[5]
References
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ de Sury R, Martinez P, Procaccio V, Lunardi J, Issartel JP (Sep 1998). "Genomic structure of the human NDUFS8 gene coding for the iron-sulfur TYKY subunit of the mitochondrial NADH:ubiquinone oxidoreductase". Gene. 215 (1): 1–10. doi:10.1016/S0378-1119(98)00275-3. PMID 9666055.
- ↑ Procaccio V, Depetris D, Soularue P, Mattei MG, Lunardi J, Issartel JP (Apr 1997). "cDNA sequence and chromosomal localization of the NDUFS8 human gene coding for the 23 kDa subunit of the mitochondrial complex I". Biochim Biophys Acta. 1351 (1–2): 37–41. doi:10.1016/s0167-4781(97)00020-1. PMID 9116042.
- 1 2 3 "Entrez Gene: NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)".
Further reading
- Procaccio V, Wallace DC (2004). "Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations". Neurology. 62 (10): 1899–901. doi:10.1212/01.wnl.0000125251.56131.65. PMC 2821060
. PMID 15159508. - 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.
- Dunbar DR, Shibasaki Y, Dobbie L, et al. (1997). "In situ hybridisation mapping of genomic clones for five human respiratory chain complex I genes". Cytogenet. Cell Genet. 78 (1): 21–4. doi:10.1159/000134618. PMID 9345899.
- 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 J, Smeitink J, Triepels R, et al. (1999). "The first nuclear-encoded complex I mutation in a patient with Leigh syndrome". Am. J. Hum. Genet. 63 (6): 1598–608. doi:10.1086/302154. PMC 1377631. PMID 9837812.
- 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, 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.
- Lescuyer P, Martinez P, Lunardi J (2002). "YY1 and Sp1 activate transcription of the human NDUFS8 gene encoding the mitochondrial complex I TYKY subunit". Biochim. Biophys. Acta. 1574 (2): 164–74. doi:10.1016/s0167-4781(01)00377-3. PMID 11955626.
- 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.
- Murray J, Taylor SW, Zhang B, et al. (2003). "Oxidative damage to mitochondrial complex I due to peroxynitrite: identification of reactive tyrosines by mass spectrometry". J. Biol. Chem. 278 (39): 37223–30. doi:10.1074/jbc.M305694200. PMID 12857734.
- 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.
- Bourges I, Ramus C, Mousson de Camaret B, et al. (2005). "Structural organization of mitochondrial human complex I: role of the ND4 and ND5 mitochondria-encoded subunits and interaction with prohibitin". Biochem. J. 383 (Pt. 3): 491–9. doi:10.1042/BJ20040256. PMC 1133742. PMID 15250827.
- 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. PMC 528928. PMID 15489334.
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