Features include always present findings: Stage 5 chronic kidney disease and Steroid-resistant nephrotic syndrome; and very common findings: Focal segmental glomerulosclerosis. 7 total HPO annotations.

COQ8B encodes coenzyme Q8B (544 aa). Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration. Highest expression in Pituitary (76.3 TPM) and Nerve Tibial (54.9 TPM).

Nephrotic syndrome, type 9 is associated with mutations in the COQ8B gene on chromosome 19.

The COQ8B protein participates in COQ6 hydroxylates DHB, COQ7:COQ9 octamer hydroxylates DMQ10H2, and COQ3 methylates DHDB pathways.

COQ8B is classified as a druggable target (Druggable Genome, Enzyme, Kinase, Serine Threonine Kinase, and Transporter categories) with score 0.0.

Genetic testing for COQ8B is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for nephrotic syndrome, type 9 has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 1 very common feature.

No clinical trials have been registered for nephrotic syndrome, type 9.

61 publications have been identified in PubMed for nephrotic syndrome, type 9. Research spans Epidemiology / Natural History (25%), Case Report / Case Series (21%), and Clinical Trial Publication (18%).