Literature associating CC2D2A and Joubert syndrome
CC2D2A [ENSP00000403465]
Coiled-coil and C2 domain-containing protein 2A; 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: CC2D2A, CC2D2Ap, hCC2D2A, A0A0J9YXT3, A0A0J9YY35 ...