Pkhd1 - polycystic kidney and hepatic disease 1

Involved in several processes, including establishment of mitotic spindle orientation; negative regulation of epithelial cell apoptotic process; and positive regulation of epithelial cell proliferation. Acts upstream of or within several processes, including branching morphogenesis of an epithelial tube; cell-cell junction organization; and cilium assembly. Located in several cellular components, including 9+0 non-motile cilium; apical plasma membrane; and extracellular exosome. Is expressed in several structures, including adrenal cortex; gut; metanephros; neural tube; and ureteric bud. Used to study autosomal recessive polycystic kidney disease and polycystic kidney disease 4. Human ortholog(s) of this gene implicated in autosomal recessive polycystic kidney disease and polycystic kidney disease 4. Orthologous to human PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin). [provided by Alliance of Genome Resources, Apr 2022]