Automated description from the Alliance of Genome Resources (Release 7.3.0)
Enables hedgehog receptor activity. Involved in cilium assembly. Acts upstream of or within several processes, including embryonic digit morphogenesis; neuroepithelial cell differentiation; and smoothened signaling pathway. Located in ciliary transition zone and membrane. Part of MKS complex. Is expressed in embryo and secondary heart field. Used to study Meckel syndrome. Human ortholog(s) of this gene implicated in Joubert syndrome 27 and Meckel syndrome. Orthologous to human B9D1 (B9 domain containing 1).
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