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.

External links

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.