TCTN1
Function
Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Regulator of Hedgehog (Hh), required for both activation and inhibition of the Hh pathway in the patterning of the neural tube. During neural tube development, it is required for formation of the most ventral cell types and for full Hh pathway activation. Functions in Hh signal transduction to fully activate the pathway in the presence of high Hh levels and to repress the pathway in the absence of Hh signals. Modulates Hh signal transduction downstream of SMO and RAB23 (By similarity).
Involvement in disease
Joubert syndrome 13
JBTS13
A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the tectonic family.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Cilium basal body
- Secreted
- Despite the presence of a signal sequence, the full-length protein might not be secreted. Localizes at the transition zone, a region between the basal body and the ciliary axoneme.
Alternative names
TECT1, UNQ9369/PRO34160, TCTN1, Tectonic-1