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CC2D2A

57545231214ENSG00000048342ENSMUSG00000039765Q9P2K1Q8CFW7NM_001080522NM_001164720NM_020785NM_172274NM_001359903NM_001359904NM_001359905NM_001359906NP_001073991NP_001158192NP_065836NP_758478NP_001346832NP_001346833NP_001346834NP_001346835Coiled-coil and C2 domain-containing protein 2A that in humans is encoded by the CC2D2A gene. Coiled-coil and C2 domain-containing protein 2A that in humans is encoded by the CC2D2A gene. This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in the CC2D2A gene are associated with Meckel syndrome as well as Joubert syndrome. This article incorporates text from the United States National Library of Medicine, which is in the public domain.

[ "Dominance (genetics)", "Joubert syndrome", "Ciliopathy", "Ciliopathies" ]
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