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MGP002038

UniProt Annotations

Entry Information
Gene NameNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
Protein EntryNDUA1_HUMAN
UniProt IDO15239
SpeciesHuman
Comments
Comment typeDescription
DiseaseMitochondrial 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. {ECO:0000269|PubMed:17262856}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionAccessory 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.
SimilarityBelongs to the complex I NDUFA1 subunit family. {ECO:0000305}.
Subcellular LocationMitochondrion inner membrane; Single-pass membrane protein; Matrix side.
SubunitComplex I is composed of 45 different subunits. {ECO:0000269|PubMed:12611891}.
Tissue SpecificityPrimarily expressed in heart and skeletal muscle.
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