Automated description from the Alliance of Genome Resources (Release 5.2.2)
Involved in cilium assembly and protein localization to ciliary transition zone. Acts upstream of or within several processes, including cilium assembly; embryonic brain development; and neural tube closure. Located in ciliary transition zone. Part of MKS complex. Is expressed in embryo and secondary heart field. Used to study Meckel syndrome and visceral heterotaxy. Human ortholog(s) of this gene implicated in Joubert syndrome 9; Meckel syndrome 6; intellectual disability; and retinitis pigmentosa. Orthologous to human CC2D2A (coiled-coil and C2 domain containing 2A).