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:

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.

2.	NCBI article NCBI 79934

3.	OMIM.ORG article Omim 615567

4.	Orphanet article Orphanet ID 376599