Health Dictionary
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TCTN3
Introduction
Tectonic family member 3 is a protein in humans that is encoded by the TCTN3 gene. [1]
This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012].