DISEASES

Disease-gene associations mined from literature

Literature associating COQ8B and focal segmental glomerulosclerosis 1

COQ8B [ENSP00000315118]

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 . 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 .

Synonyms:  COQ8B,  COQ8Bp,  hCOQ8B,  A0A024R0Q9,  A0A0G2JLJ7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM