TCTN3

Description

The TCTN3 (tectonic family member 3) is a protein-coding gene located on chromosome 10.

TCTN3, also known as Tectonic family member 3, is a protein in humans encoded by the TCTN3 gene. This gene belongs to the tectonic gene family, which plays a role in Hedgehog signal transduction and the development of the neural tube. Mutations in this gene have been linked to Oral-facial-digital syndrome IV and Joubert syndrome 18. TCTN3 gene exhibits alternative splicing, resulting in multiple isoforms.

TCTN3 is also known as C10orf61, JBTS18, OFD4, TECT3.

Associated Diseases

• Orofaciodigital syndrome type 4
• Orofaciodigital syndrome IV
• Joubert syndrome
• Meckel syndrome
• Joubert syndrome 18
• Orofaciodigital syndrome type 6