Disease-gene associations mined from literature

Literature associating TCTN1 and Joubert syndrome 1

TCTN1 [ENSP00000380779]

Tectonic family member 1; 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).

Synonyms:  TCTN1,  TCTN1p,  hTCTN1,  A8MW34,  B4DIB9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM