This gene encodes a subunit of the membrane-bound mitochondrial complex I. Complex I is composed of numerous subunits and functions as the NADH-ubiquinol reductase of the mitochondrial electron transport chain. Mutations in this gene are associated with severe mitochondrial complex I deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 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.
Subcellular Location:
Mitochondrion inner membrane.
DISEASE:
Defects in NDUFA11 are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations, from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy and some forms of Parkinson disease.
Similarity:
Belongs to the complex I NDUFA11 subunit family.
SWISS:
Q86Y39
Gene ID:
126328
Database links:
Entrez Gene: 126328 Human
Entrez Gene: 69875 Mouse
Entrez Gene: 301123 Rat
Omim: 612638 Human
SwissProt: Q86Y39 Human
SwissProt: Q9D8B4 Mouse
Unigene: 406062 Human
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