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NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6

Also known as: C8orf38

Summary

This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]

Genomic context

Location:
8q22.1
Sequence:
Chromosome: 8; NC_000008.11 (94895271..95118496)
Total number of exons:
25

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