polycystic kidney and hepatic disease 1 (autosomal recessive) | |
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Identifiers | |
Symbol | PKHD1 |
Alt. symbols | TIGM1 |
Entrez | 5314 |
HUGO | 9016 |
OMIM | 606702 |
RefSeq | NM_138694 |
UniProt | Q8TCZ9 |
Other data | |
Locus | Chr. 6 p21.2-p12 |
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.
Mutations of its encoding gene (chromosomal locus 6p12.2) can cause autosomal recessive polycystic kidney disease.