NDUFS4

NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
Identifiers
Symbols	NDUFS4 ; AQDQ
External IDs	Template:OMIM5 Template:MGI HomoloGene: 1866
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO
RNA expression pattern
File:PBB GE NDUFS4 209303 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 4, 18kDa (NADH-coenzyme Q reductase), also known as NDUFS4, is a human gene.

Complex I, or NADH:ubiquinone oxidoreductase, the first multisubunit enzyme complex of the mitochondrial respiratory chain, plays a vital role in cellular ATP production, the primary source of energy for many crucial processes in living cells. It removes electrons from NADH and passes them by a series of different protein-coupled redox centers to the electron acceptor ubiquinone. In well-coupled mitochondria, the electron flux leads to ATP generation via the building of a proton gradient across the inner membrane. Complex I is composed of at least 41 subunits, of which 7 are encoded by the mitochondrial genome (ND1-6, ND4L) and the remainder by nuclear genes (van den Heuvel et al., 1998).[supplied by OMIM]

Further reading

• Papa S, Sardanelli AM, Scacco S; et al. (2003). "The NADH: ubiquinone oxidoreductase (complex I) of the mammalian respiratory chain and the cAMP cascade". J. Bioenerg. Biomembr. 34 (1): 1–10. PMID 11860175.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Pilkington SJ, Skehel JM, Gennis RB, Walker JE (1991). "Relationship between mitochondrial NADH-ubiquinone reductase and a bacterial NAD-reducing hydrogenase". Biochemistry. 30 (8): 2166–75. PMID 1900194.CS1 maint: Multiple names: authors list (link)
• van den Heuvel L, Ruitenbeek W, Smeets R; et al. (1998). "Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit". Am. J. Hum. Genet. 62 (2): 262–8. PMID 9463323.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Papa S, Scacco S, Sardanelli AM; et al. (2001). "Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome". FEBS Lett. 489 (2–3): 259–62. PMID 11165261.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Petruzzella V, Vergari R, Puzziferri I; et al. (2001). "A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome". Hum. Mol. Genet. 10 (5): 529–35. PMID 11181577.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Roef MJ, Reijngoud DJ, Jeneson JA; et al. (2002). "Resting oxygen consumption and in vivo ADP are increased in myopathy due to complex I deficiency". Neurology. 58 (7): 1088–93. PMID 11940698.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lee BH, Lee H, Xiong L, Zhu JK (2002). "A mitochondrial complex I defect impairs cold-regulated nuclear gene expression". Plant Cell. 14 (6): 1235–51. PMID 12084824.CS1 maint: Multiple names: authors list (link)
• Papa S (2002). "The NDUFS4 nuclear gene of complex I of mitochondria and the cAMP cascade". Biochim. Biophys. Acta. 1555 (1–3): 147–53. PMID 12206907.
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bénit P, Steffann J, Lebon S; et al. (2003). "Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome". Hum. Genet. 112 (5–6): 563–6. doi:10.1007/s00439-002-0884-2. PMID 12616398.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Scacco S, Petruzzella V, Budde S; et al. (2004). "Pathological mutations of the human NDUFS4 gene of the 18-kDa (AQDQ) subunit of complex I affect the expression of the protein and the assembly and function of the complex". J. Biol. Chem. 278 (45): 44161–7. doi:10.1074/jbc.M307615200. PMID 12944388.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Budde SM, van den Heuvel LP, Smeets RJ; et al. (2004). "Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I.". J. Inherit. Metab. Dis. 26 (8): 813–5. PMID 14765537.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Papa S, Petruzzella V, Scacco S; et al. (2004). "Respiratory complex I in brain development and genetic disease". Neurochem. Res. 29 (3): 547–60. PMID 15038602.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Petruzzella V, Panelli D, Torraco A; et al. (2005). "Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants". FEBS Lett. 579 (17): 3770–6. doi:10.1016/j.febslet.2005.05.035. PMID 15975579.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Tao WA, Wollscheid B, O'Brien R; et al. (2005). "Quantitative phosphoproteome analysis using a dendrimer conjugation chemistry and tandem mass spectrometry". Nat. Methods. 2 (8): 591–8. doi:10.1038/nmeth776. PMID 16094384.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)