Coenzyme Q6 monooxygenase
The COQ6 gene encodes a mitochondrial enzyme in the biosynthesis of CoQ10 (ubiquinone). Mutations cause autosomal recessive primary coenzyme Q10 deficiency 6, an encephalomyopathy.
Genetests:
Related Diseases:
References:
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Lai CH et al. (2000) Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.
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2. |
Heeringa SF et al. (2011) COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
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3. |
OMIM.ORG article
Omim 614647
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4. |
Orphanet article
Orphanet ID 280409
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5. |
NCBI article
NCBI 51004
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6. |
Wikipedia article
Wikipedia EN (COQ6)
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Update: Aug. 14, 2020