Coenzyme Q10 Deficiency, Primary, 6 (COQ10D6)

Coenzyme Q10 Deficiency, Primary, 6, also known as familial steroid-resistant nephrotic syndrome with sensorineural deafness, is related to focal segmental glomerulosclerosis and nephrotic syndrome. An important gene associated with Coenzyme Q10 Deficiency, Primary, 6 is COQ6 (Coenzyme Q6, Monooxygenase), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include skeletal muscle and kidney, and related phenotypes are steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis