Literature associating CPLANE2 and Carpenter syndrome
CPLANE2 [ENSP00000364749]
Ciliogenesis and planar polarity effector 2; Potential effector of the planar cell polarity signaling pathway. Plays a role in targeted membrane trafficking most probably at the level of vesicle fusion with membranes. Involved in cilium biogenesis by regulating the transport of cargo proteins to the basal body and to the apical tips of cilia. More generally involved in exocytosis in secretory cells (By similarity).
Synonyms: CPLANE2, CPLANE2p, hCPLANE2, H0Y6L8, Q9BU20 ...