Symbol PKHD1 Entrez 5314 OMIM 606702 | Alt. symbols TIGM1 HUGO 9016 RefSeq NM_138694 | |
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. 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.
References
Fibrocystin Wikipedia(Text) CC BY-SA