CoraLite®594-conjugated TCTN1 Polyclonal antibody

Tectonic-1, encoded by TCTN1 (TECT1) gene, belongs to the tectonic family of secreted and transmembrane proteins. Tectonic-1 is a 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. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in TCTN1 are the cause of Joubert syndrome type 13 (JBTS13), a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay.During neural tube development, mouse Tectonic is required for formation of the most ventral cell types and for full Hedgehog (Hh) pathway activation. Epistasis analyses reveal that Tectonic modulates Hh signal transduction downstream of Smoothened (Smo) and Rab23.