Entrez Summary: This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013].
UniProt Summary: Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity). {ECO:0000250}.
Pfam DomainsGO Terms
Pfam Domains
NAcGluc Transf
GO Terms
MKS complex
ciliary transition zone
neuroepithelial cell differentiation
ciliary membrane
embryonic digit morphogenesis
smoothened signaling pathway
columnar/cuboidal epithelial cell differentiation
embryonic limb morphogenesis
embryonic appendage morphogenesis
limb morphogenesis
appendage morphogenesis
limb development
appendage development
camera-type eye development
cilium assembly
eye development
visual system development
cilium organization
sensory system development
in utero embryonic development
plasma membrane bounded cell projection assembly
cell projection assembly
vasculature development
cardiovascular system development
sensory organ development
embryonic morphogenesis
chordate embryonic development
embryo development ending in birth or egg hatching