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. Mutations in this gene have been associated with Leigh syndrome. [provided by RefSeq, Mar 2010]
Function:
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). May donate electrons to ubiquinone.
Subcellular Location:
Mitochondrion.
DISEASE:
Defects in NDUFS8 are a cause of Leigh syndrome (LS) [MIM:256000]. LS is a severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions.
Similarity:
Belongs to the complex I 23 kDa subunit family.
Contains 2 4Fe-4S ferredoxin-type domains.
SWISS:
O00217
Gene ID:
4728
Database links:
Entrez Gene: 4728 Human
Entrez Gene: 287027 Cow
Entrez Gene: 225887 Mouse
Entrez Gene: 293652 Rat
Omim: 602141 Human
SwissProt: Q0MQI3 Chimpanzee
SwissProt: P42028 Cow
SwissProt: Q60HE3 Cynomolgus Monkey
SwissProt: O00217 Human
SwissProt: Q8K3J1 Mouse
SwissProt: P0CB97 Orangutan
Unigene: 90443 Human
Unigene: 44227 Mouse
Unigene: 3373 Rat
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