| Primary Identifier | IPR028839 | Type | Family |
| Short Name | PKHD1 |
| description | Fibrocystin, also known as polyductin or polycystic kidney and hepatic disease 1 protein (PKHD1), may be required for correct bipolar cell division through the regulation of centrosome duplication and mitotic spindle assembly []. There are several alternative forms of fibrocystin which are expressed in plasma membrane, primary cilium, and cytoplasm []. The mature cleaved form of fibrocystin is found in exosome-like vesicles (ELVs) in mouse urine. These fibrocystin-containing ELVs can rapidly associate with primary cilia in the kidney []. Mutations in fibrocystin gene cause polycystic kidney disease, autosomal recessive (ARPKD), which is a severe form of polycystic kidney disease affecting the kidneys and the hepatic biliary tract []. |
