ADCK4
ADCK4 (COQ8B) is a mitochondrial AarF-domain kinase family member whose deficiency produces a tissue-restricted human disease: mutations cause steroid-resistant nephrotic syndrome of the focal segmental glomerulosclerosis type, reflecting the high CoQ10 demand of glomerular podocytes. ADCK4 acts within the Coenzyme Q biosynthesis machinery of the inner membrane, and patients frequently respond to early CoQ10 supplementation, making it a treatable mitochondrial disorder. Expression is prominent in kidney alongside other tissues. Recombinant ADCK4 supports studies of podocyte CoQ10 metabolism, structure-function analysis of nephrotic-syndrome variants and screening for correctors of ADCK4 deficiency.
