The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Function:
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in 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.
Subunit:
Complex I is composed of 45 different subunits.
Subcellular Location:
Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.
SWISS:
O43678
Gene ID:
4695
Database links:
Entrez Gene: 4695 Human
Entrez Gene: 17991 Mouse
Omim: 602137 Human
SwissProt: Q4R5E2 Cynomolgus Monkey
SwissProt: Q0MQ92 Gorilla
SwissProt: O43678 Human
SwissProt: Q9CQ75 Mouse
SwissProt: P0CB79 Orangutan
Unigene: 534333 Human
Unigene: 75914 Human
Unigene: 29867 Mouse
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