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 [].
This entry represents a domain found in disease proteins PKHD1 and KIAA1199 and is named G8 after its 8 conserved glycines. It is predicted to contain 10 beta strands and an alpha helix [].
