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COQ4 coenzyme Q4

Also known as: CGI-92; COQ10D7

Summary

This gene encodes a component of the coenzyme Q biosynthesis pathway. Coenzyme Q, an essential component of the electron transport chain, shuttles electrons between complexes I or II to complex III of the mitochondrial transport chain. This protein appears to play a structural role in stabilizing a complex that contains most of the coenzyme Q biosynthesis enzymes. Mutations in this gene are associated with mitochondrial disorders linked to coenzyme Q deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

Associated conditions

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DescriptionTests
Coenzyme Q10 deficiency, primary, 7
MedGen: CN228795OMIM: 616276GeneReviews: Not available
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Genomic context

Location:
9q34.11
Sequence:
Chromosome: 9; NC_000009.12 (128322486..128334072)
Total number of exons:
8

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