Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
Research 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.

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2.

NCBI article

NCBI 79934 [^]
3.

OMIM.ORG article

Omim 615567 [^]
4.

Orphanet article

Orphanet ID 376599 [^]
Update: April 29, 2019