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.
Orphanet ID 376599
Update: Aug. 14, 2020