COQ8B

COQ8B (Coenzyme Q8B) is a Protein Coding gene. Diseases associated with COQ8B include Nephrotic Syndrome, Type 9 and Focal Segmental Glomerulosclerosis 1. An important paralog of this gene is COQ8A.

Coenzyme Q8B

Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration (PubMed:24270420).

Its substrate specificity is unclear: does not show any protein kinase activity. Probably acts as a small molecule kinase, possibly a lipid kinase that phosphorylates a prenyl lipid in the ubiquinone biosynthesis pathway. Required for podocyte migration (PubMed:24270420).

Cerebellar Purkinje cell layer morphogenesis Source: UniProtKB
Protein phosphorylation Source: GOC
Ubiquinone biosynthetic process Source: UniProtKB

Mitochondrion membrane; Cell membrane; Cytosol

Nephrotic syndrome 9 (NPHS9):
A form of nephrotic syndrome, a renal disease clinically characterized by progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show focal segmental glomerulosclerosis.

Helical: 92-108