PKHD1

polycystic kidney and hepatic disease 1 (autosomal recessive)
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.

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Wikipedia