Coenzyme Q9 homolog (S. cerevisiae)
The COQ9 gene encodes a mitochondrial enzyme in the biosynthesis of CoQ10 (ubiquinone). Mutations cause autosomal recessive primary coenzyme Q10 deficiency 5, an encephalomyopathy.
Genetests:
Related Diseases:
References:
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Quinzii CM et al. (2010) Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency.
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2. |
Loftus BJ et al. (1999) Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q.
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3. |
Johnson A et al. (2005) COQ9, a new gene required for the biosynthesis of coenzyme Q in Saccharomyces cerevisiae.
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4. |
Duncan AJ et al. (2009) A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease.
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5. |
NCBI article
NCBI 57017
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6. |
OMIM.ORG article
Omim 612837
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7. |
Orphanet article
Orphanet ID 201526
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8. |
Wikipedia article
Wikipedia EN (COQ9)
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Update: Aug. 14, 2020