Table 1.

Genes involved in CoQ biosynthesis and associated with clinical renal pathology

Human Gene NameProtein FunctionDrosophila OrthologConservation ScoreRepresentative Nephropathy
PDSS1 (COQ1 subunit 1)Catalytic subunit of COQ1, synthesis of CoQ polyisoprene tailQless9None identified
PDSS2 (COQ1 subunit 2)Regulatory subunit of COQ1Pdss2 (CG10585)10NS
COQ2Transferase, links parahydroxybenzoate redox-active head precursor to polyisoprene tailCoq2 (CG9613)10FSGS
COQ3Methylase, modification of CoQ redox-active headCoq3 (CG9249)10None identified
COQ4Unknown function (regulatory?)Coq4 (CG32174)10None identified
COQ5Methylase, modification of CoQ redox-active headCoq5 (CG2453)9None identified
COQ6Hydroxylase, modification of CoQ redox-active headCoq6 (CG7277)10SRNS
COQ7Hydroxylase, modification of CoQ redox-active headCoq7 (CG14437)8None identified
COQ8 (ADCK4)Kinase (regulatory?)Coq8/Adck4 (CG32649)9SRNS
COQ9Unknown function (regulatory?)Coq9 (CG30493)10Renal tubulopathy
  • Human COQ genes and Drosophila orthologs are shown, with degree of homology (conservation score: 1–10 [lowest to highest] scale).34 Representative manifestations of kidney disease are indicated for mutation of PDSS2,16 COQ2,17 COQ6,9 COQ8,4 and COQ9.35