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COQ10D8
Chr 16ARcoenzyme Q7, hydroxylase
Also known as: CAT5, COQ10D8, HMNR9
The protein encoded by COQ10D8 is a mitochondrial di-iron containing hydroxylase involved in ubiquinone (coenzyme Q10) biosynthesis. Mutations cause primary coenzyme Q10 deficiency type 8, which affects mitochondrial energy production and can present with neurological and muscular symptoms. This condition follows autosomal recessive inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/COQ10D8?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
COQ10D8 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
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External Resources
Links to major genomics databases and tools