Automated description from the Alliance of Genome Resources
Involved in several processes, including animal organ development; cilium assembly; and regulation of signal transduction. Localizes to the MKS complex; membrane; and microtubule organizing center. Used to study Meckel syndrome; atrioventricular septal defect; and tetralogy of Fallot. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 13; Joubert syndrome 28; and Meckel syndrome 1. Orthologous to human MKS1 (MKS transition zone complex subunit 1).