NDUFS8

From Wikipedia, the free encyclopedia
Jump to: navigation, search
NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
Identifiers
Symbols NDUFS8 ; CI-23k; CI23KD; TYKY
External IDs OMIM602141 MGI2385079 HomoloGene1867 ChEMBL: 2090 GeneCards: NDUFS8 Gene
EC number 1.6.5.3, 1.6.99.3
RNA expression pattern
PBB GE NDUFS8 203190 at tn.png
PBB GE NDUFS8 203189 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 4728 225887
Ensembl ENSG00000110717 ENSMUSG00000059734
UniProt O00217 Q8K3J1
RefSeq (mRNA) NM_002496 NM_001271443
RefSeq (protein) NP_002487 NP_001258372
Location (UCSC) Chr 11:
67.8 – 67.8 Mb
Chr 19:
3.91 – 3.91 Mb
PubMed search [1] [2]

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.[1][2][3]

Function[edit]

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.[3]

Clinical significance[edit]

Mutations in this gene have been associated with Leigh syndrome.[3]

References[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ a b c "Entrez Gene: NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)". 

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.