CC2D2A

Coiled-coil and C2 domain-containing protein 2A that in humans is encoded by the CC2D2A is_associated_with::gene.

Function
This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in is_associated_with::cilia formation.

Clinical significance
Mutations in the CC2D2A gene are associated with is_associated_with::Meckel syndrome as well as is_associated_with::Joubert syndrome.