{"symbol":"CC2D2A","synonyms":["JBTS9","MKS6"],"name":"coiled-coil and C2 domain containing 2A","description":"This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]","ncbiEntrezGeneId":57545,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/57545","proteins":[{"symbol":"C2D2A_HUMAN","href":"/api/1.0/protein/C2D2A_HUMAN"}],"hgncRootFamilies":[]}