Which of the following is associated with cystic disease in kidney?: (A) Fibrocystin, (B) Polycystin-1, (C) Polycystin-2, (D) All of the above
Answer is D. Autosomal dominant polycystic kidney disease is caused by mutations in: The PKD1 gene encodes a large (460-kD) integral membrane protein named polycystin-1 The PKD2 gene product polycystin-2 Autosomal recessive kidney disease is caused due to mutation in PKHD1 gene coding for fibrocystin. Ref: Robbins 8th edition Chapter 20.