Autosomal recessive kidney disease is caused due to mutation in:
Correct Answer: Fibrocystin
Description: 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.
Category:
Pathology
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