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.
Ashraf S et al. (2013) ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
NCBI 79934 [^]
Omim 615567 [^]
Orphanet ID 376599 [^]
Update: April 29, 2019