CC2D2A - coiled-coil and C2 domain containing 2A
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]
NCBI Orthologs
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Protein alignment
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Species | Gene | Architecture | aa |
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