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CC2D2A

Official Full Name
coiled-coil and C2 domain containing 2A
Organism
Homo sapiens
GeneID
57545
Background
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]
Synonyms
MKS6; RP93; JBTS9; COACH2;

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