CC2D2A
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Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Coiled-coil and C2 domain-containing protein 2A that in humans is encoded by the CC2D2A gene.[1][2][3]
Function
[edit | edit source]This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation.[1]
Clinical significance
[edit | edit source]Mutations in the CC2D2A gene are associated with Meckel syndrome as well as Joubert syndrome.[1]
References
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External links
[edit | edit source]- Human CC2D2A genome location and CC2D2A gene details page in the UCSC Genome Browser.
Further reading
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
