DISEASES

Disease-gene associations mined from literature

Literature associating TMEM231 and Joubert syndrome

TMEM231 [ENSP00000258173]

Transmembrane protein 231; Transmembrane 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. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity).

Synonyms:  TMEM231,  TMEM231p,  hTMEM231,  B7Z5I3,  H3BMW7 ...

Linkouts:  STRING  Pharos  UniProt