Aliases for TCTN3 Gene
External Ids for TCTN3 Gene
Previous HGNC Symbols for TCTN3 Gene
Previous GeneCards Identifiers for TCTN3 Gene
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]
GeneCards Summary for TCTN3 Gene
TCTN3 (Tectonic Family Member 3) is a Protein Coding gene. Diseases associated with TCTN3 include Joubert Syndrome 18 and Orofaciodigital Syndrome Iv. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. An important paralog of this gene is TCTN1.
UniProtKB/Swiss-Prot Summary for TCTN3 Gene
Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). May be involved in apoptosis regulation. Necessary for signal transduction through the sonic hedgehog (Shh) signaling pathway.