Pkhd1 - PKHD1 ciliary IPT domain containing fibrocystin/polyductin

Predicted to be involved in several processes, including establishment of centrosome localization; regulation of epithelial cell proliferation; and regulation of intracellular signal transduction. Predicted to act upstream of or within several processes, including branching morphogenesis of an epithelial tube; cell-cell junction organization; and cilium assembly. Located in cilium and membrane. Used to study autosomal recessive polycystic kidney disease. Biomarker of autosomal recessive polycystic kidney disease. 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]