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


More reference expression data
Orthologs
Species Human Mouse
Entrez

4728

225887

Ensembl

ENSG00000110717

ENSMUSG00000059734

UniProt

O00217

Q8K3J1

RefSeq (mRNA)

NM_002496

NM_001271443
NM_001271444
NM_144870

RefSeq (protein)

NP_002487.1

NP_001258372.1
NP_001258373.1
NP_659119.2

Location (UCSC) Chr 11: 68.03 – 68.04 Mb Chr 19: 3.91 – 3.91 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/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

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 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.
  4. 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.
  5. 1 2 3 "Entrez Gene: NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)".

Further reading

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


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