| Entrez Gene ID |
26123 |
| Official Gene Symbol |
TCTN3 (GeneCards) |
| Full name |
tectonic family member 3 |
| Location |
10q24.1 |
| Other ids |
Vega : OTTHUMG00000018814
MIM : 613847
HGNC : HGNC:24519
Ensembl : ENSG00000119977
|
| Other names |
OFD4,
TECT3,
JBTS18,
C10orf61
|
| 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] |