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NDUFB3 NADH:ubiquinone oxidoreductase subunit B3

Also known as: B12; CI-B12


This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which is the first enzyme in the electron transport chain of mitochondria. This protein localizes to the inner membrane of the mitochondrion as a single-pass membrane protein. Mutations in this gene contribute to mitochondrial complex 1 deficiency. Alternative splicing results in multiple transcript variants encoding the same protein. Humans have multiple pseudogenes of this gene. [provided by RefSeq, Mar 2012]

Associated conditions

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Mitochondrial complex I deficiency
MedGen: C1838979OMIM: 252010GeneReviews: Not available
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Genomic context

Chromosome: 2; NC_000002.12 (201071739..201085750)
Total number of exons:


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