Entrez 57545 | Ensembl ENSG00000048342 | |
Aliases CC2D2A, JBTS9, MKS6, coiled-coil and C2 domain containing 2A External IDs MGI: 1924487 HomoloGene: 18159 GeneCards: CC2D2A | ||
Coiled-coil and C2 domain-containing protein 2A that in humans is encoded by the CC2D2A gene.
Contents
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.
References
CC2D2A Wikipedia(Text) CC BY-SA