This target displays homology in the following species: Guinea Pig: 77%; Human: 100%; Mouse: 92%
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.
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Protein Aliases: Coiled-coil and C2 domain-containing protein 2A
Gene Aliases: 5730509K17Rik; b2b1035Clo; CC2D2A; JBTS9; KIAA1345; MKS6