Anti-TCTN3 Antibody

TCTN3 (tectonic-3 or TECT3) is a type I membrane protein that belongs to the tectonic family, which consists of TCTN1, TCTN2 and TCTN3. Studies in mice suggest that tectonic may be involved in Hedgehog (Hh) signaling, and essential for ciliogenesis. Tectonic is 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. TCTN3 is necessary for transduction of the sonic hedgehog (SHH) signaling pathway. Orofaciodigital syndromes (OFDSs) consist of a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities. Recently, TCTN3 mutations are found as the cause of an extreme form of OFD associated with bone dysplasia, tibial defect, cystic kidneys, and brain anomalies.