NDUFAF3
Protein-coding gene in the species Homo sapiens / From Wikipedia, the free encyclopedia
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NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3, also known as 2P1, E3-3, or C3orf60, is a protein that in humans is encoded by the NDUFAF3 gene.[5][6][7] NDUFAF3 is a mitochondrial assembly protein involved in the assembly of NADH dehydrogenase (ubiquinone) also known as complex I, which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain.[8][9] Mutations in this gene have been associated with severe complex I deficiency and Leigh syndrome.[5][9][10]
Quick Facts Identifiers, Aliases ...
NDUFAF3 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | NDUFAF3, 2P1, C3orf60, E3-3, NADH:ubiquinone oxidoreductase complex assembly factor 3, MC1DN18 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 612911 MGI: 1913956 HomoloGene: 32460 GeneCards: NDUFAF3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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