Entrez Summary: This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Mar 2016].
UniProt Summary: 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
B9
GO Terms
hedgehog receptor activity
MKS complex
ciliary transition zone
neuroepithelial cell differentiation
embryonic digit morphogenesis
smoothened signaling pathway
columnar/cuboidal epithelial cell differentiation
ciliary basal body-plasma membrane docking
embryonic limb morphogenesis
embryonic appendage morphogenesis
ciliary basal body
limb morphogenesis
appendage morphogenesis
organelle localization by membrane tethering
membrane docking
limb development
appendage development
camera-type eye development
cilium assembly
eye development
visual system development
sensory system development
cilium organization
in utero embryonic development
plasma membrane bounded cell projection assembly
cell projection assembly
centrosome
vasculature development
cardiovascular system development
sensory organ development
embryonic morphogenesis
organelle localization
chordate embryonic development
embryo development ending in birth or egg hatching