Automated description from the Alliance of Genome Resources (Release 5.2.2)
Involved in several processes, including cilium assembly; determination of left/right symmetry; and maintenance of animal organ identity. Acts upstream of or within several processes, including extracellular matrix organization; non-motile cilium assembly; and positive regulation of protein binding activity. Located in ciliary base and ciliary inversin compartment. Is expressed in embryo and secondary heart field. Used to study autosomal dominant polycystic kidney disease and nephronophthisis 3. Human ortholog(s) of this gene implicated in Meckel syndrome 7; nephronophthisis; nephronophthisis 3; and renal-hepatic-pancreatic dysplasia. Orthologous to human NPHP3 (nephrocystin 3).