C2 Calcium Dependent Domain Containing Protein 3 (C2CD3)

Cilia are essential for mammalian embryonic development as well as for the physiological activity of various adult organ systems. C2cd3, a novel gene encoding a vertebrate-specific C2 domain-containing protein. Target gene expression and double-mutant analyses suggest that C2cd3 is an essential regulator of intracellular transduction of the Hedgehog signal. Furthering a link between Hedgehog signaling and cilia function, cilia formation and proteolytic processing of Gli3 are disrupted in C2cd3 mutants. Interestingly, the human ortholog for this gene lies in proximity to the critical regions of Meckel-Gruber syndrome 2 (MKS2) and Joubert syndrome 2 (JBTS2), making it a potential candidate for these two human genetic disorders.