Gene Symbol | TCTN3 |
Entrez Gene ID | 26123 |
Full Name | tectonic family member 3 |
Synonyms | C10orf61,JBTS18,OFD4,TECT3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Orofaciodigital syndrome IV, 258860 (3); Joubert syndrome 18, 614815 (3) |