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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.
5730509K17Rik; b2b1035Clo; CC2D2A; coiled-coil and C2 domain containing 2A; coiled-coil and C2 domain-containing protein 2A; JBTS9; KIAA1345; MKS6
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