Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

COQ8B gene

The COQ8B (ADCK4) gene encodes a protein kinase that is involved in Coenzyme Q10 regulation. Loss-of-function mutations cause autosomal recessive congenital nephrotic syndrome type 9 which can be successfully treated by CoQ10 supplementation.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Congenital nephrotic syndrome type 09



Ashraf S et al. (2013) ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.

external link

NCBI article

NCBI 79934 external link

OMIM.ORG article

Omim 615567 external link

Orphanet article

Orphanet ID 376599 external link
Update: Aug. 14, 2020
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