CC2D2A

Coiled-coil and C2 domain-containing protein 2A that in humans is encoded by the "CC2D2A" gene.
Function.
This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation.
Clinical significance.
Mutations in the CC2D2A gene are associated with Meckel syndrome as well as Joubert syndrome.