NDUFAF4
Protein-coding gene in the species Homo sapiens / From Wikipedia, the free encyclopedia
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NADH:ubiquinone oxidoreductase complex assembly factor 4, (NDUFAF4) also known as Hormone-regulated proliferation-associated protein of 20 kDa, (HRPAP20) or C6orf66 is a protein that in humans is encoded by the NDUFAF4 gene.[5][6] NDUFAF4 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.[7][8] Mutations in this gene have been associated with complex I deficiency and infantile mitochondrial encephalomyopathy.[5][6][8] Elevations in HRPAP20 have also been implicated in breast cancer.[9]
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Aliases | NDUFAF4, C6orf66, HRPAP20, My013, bA22L21.1, HSPC125, NADH:ubiquinone oxidoreductase complex assembly factor 4, MC1DN15 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 611776 MGI: 1915743 HomoloGene: 40928 GeneCards: NDUFAF4 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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