Fibrocystin is a large, receptor-like
protein that is thought to be involved in the tubulogenesis and/or maintenance of duct-lumen architecture of
epithelium
Epithelium or epithelial tissue is one of the four basic types of animal tissue, along with connective tissue, muscle tissue and nervous tissue. It is a thin, continuous, protective layer of compactly packed cells with a little intercellul ...
.
FPC associates with the primary cilia of epithelial cells and co-localizes with the Pkd2 gene product polycystin-2 (PC2), suggesting that these two proteins may function in a common molecular pathway.
Pathology
Mutations of its encoding gene (chromosomal locus 6p12.2) can cause
autosomal recessive polycystic kidney disease. PKHD1 gene codes for fibrocystin. Fibrocystin is found in the epithelial cell of both the renal tubule and the bile ducts. A mutation in PKHD1 (can be autosomal recessive pattern or spontaneous mutations) leading to a deficiency in fibrocystin causes characteristic polycystic dilation of both structures.
References
External links
GeneReviews/NIH/NCBI/UW entry on Polycystic Kidney Disease, Autosomal Recessive*
Single-pass transmembrane proteins
{{gene-6-stub