Fibrocystin

Content sourced from Wikipedia, licensed under CC BY-SA 3.0.

Fibrocystin is a large receptor-like protein produced by the PKHD1 gene. In humans, PKHD1 sits on chromosome 6p12.2. Fibrocystin is found in the epithelial cells lining the kidney tubules and bile ducts and is associated with primary cilia on these cells. It often sits with polycystin-2 (PC2), suggesting they work together in a common pathway to build and maintain duct structures. Mutations in PKHD1 disrupt fibrocystin’s function and cause autosomal recessive polycystic kidney disease (ARPKD), a condition where the kidneys and liver develop multiple cysts and related problems. In short, fibrocystin helps kidney and bile duct cells stay organized, and PKHD1 mutations lead to ARPKD.