Disease-gene associations mined from literature

Literature associating CC2D2A and Joubert syndrome 4

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,  CC2D2A-002,  CC2D2A-003 ...

Linkouts:  STRING  Pharos  UniProt