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.

Genetests:

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
COQ8B

References:

1.

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

external link
2.

NCBI article

NCBI 79934 external link
3.

OMIM.ORG article

Omim 615567 external link
4.

Orphanet article

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