NDUFS4

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NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
Identifiers
Symbols NDUFS4 ; AQDQ; CI-18
External IDs OMIM602694 MGI1343135 HomoloGene1866 GeneCards: NDUFS4 Gene
RNA expression pattern
PBB GE NDUFS4 209303 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 4724 17993
Ensembl ENSG00000164258 ENSMUSG00000021764
UniProt O43181 Q9CXZ1
RefSeq (mRNA) NM_002495 NM_010887
RefSeq (protein) NP_002486 NP_035017
Location (UCSC) Chr 5:
52.86 – 52.98 Mb
Chr 13:
114.29 – 114.39 Mb
PubMed search [1] [2]

NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial also known as NADH-ubiquinone oxidoreductase 18 kDa subunit is an enzyme that in humans is encoded by the NDUFS4 gene.[1][2][3]

Function[edit]

Complex I, or NADH:ubiquinone oxidoreductase, the first multisubunit enzyme complex of the mitochondrial respiratory chain 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.[3][1]

References[edit]

  1. ^ a b van den Heuvel L, Ruitenbeek W, Smeets R, Gelman-Kohan Z, Elpeleg O, Loeffen J, Trijbels F, Mariman E, de Bruijn D, Smeitink J (Apr 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. doi:10.1086/301716. PMC 1376892. PMID 9463323. 
  2. ^ Emahazion T, Beskow A, Gyllensten U, Brookes AJ (Nov 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. doi:10.1159/000015082. PMID 9763677. 
  3. ^ a b "Entrez Gene: NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)". 

Further reading[edit]