coenzyme Q8B
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalPossible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomalProteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalRetinal disorders
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomalUnexplained kidney failure in young people
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
nephrotic syndrome
familial idiopathic steroid-resistant nephrotic syndrome
retinitis pigmentosa
hereditary disease
mitochondrial disease
inborn mitochondrial metabolism disorder
focal segmental glomerulosclerosis
retinal disorder
chronic obstructive pulmonary disease
inflammatory bowel disease
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Atypical kinase COQ8B, mitochondrial
Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration (PubMed:24270420, PubMed:36302899, PubMed:38425362). Its substrate specificity is still unclear: may act as a protein kinase that mediates phosphorylation of COQ3 (PubMed:38425362). According to other reports, acts as a small molecule kinase, possibly a lipid kinase that phosphorylates a prenyl lipid in the ubiquinone biosynthesis pathway, as suggested by its ability to bind coenzyme Q lipid intermediates (By similarity). However, the small molecule kinase activity was not confirmed by another publication (PubMed:38425362). Required for podocyte migration (PubMed:24270420)
Curated MONDO disease pages that list COQ8B among their top associated genes.
COQ8B · Q96D53
Mean pLDDT
76.1/ 100
Confident
544 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
