Tectonic family member 3 (TCTN3)

Tectonic family member 3 (TCTN3) is a single-pass membrane protein localized at the ciliary transition zone, where it is an essential component of protein complexes involved in tissue-specific ciliogenesis and the regulation of ciliary membrane composition. It is required for proper Sonic Hedgehog (SHH) signal transduction and plays a critical role in neural tube development. Mutations in TCTN3 are linked to human ciliopathies including orofaciodigital syndrome IV and Joubert syndrome 18, leading to a wide range of developmental defects such as craniofacial abnormalities, brain anomalies, congenital heart disease, and neural tube defects. Loss of TCTN3 disrupts SHH signaling and may also interfere with apoptosis regulation via the PI3K/Akt pathway. No direct evidence is available to indicate TCTN3 is a current therapeutic drug target, nor are there known drugs that target it.

Other names

C10orf61Tectonic-3TECT3PSEC0041UNQ1881/PRO4324DKFZP564D116JBTS18OFD4