Description
This unpublished dataset is based on the Cc2d2a gene, which is: involved in cilium assembly and protein localization to ciliary transition zone. Acts upstream of or within several processes, including animal organ development; cilium assembly; and neural tube closure. Located in ciliary transition zone. Part of MKS complex. Used to study Meckel syndrome and visceral heterotaxy. Human ortholog(s) of this gene implicated in Joubert syndrome 9; Meckel syndrome 6; and intellectual disability. Orthologous to human CC2D2A. The Mks (Cc2d2a) data are closely related to the other ciliopathy datasets in MusMorph, including B9d, Ift, and Tctn.
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Publication Details
Subfield
Molecular Biology
Field
Biochemistry, Genetics and Molecular Biology
Domain
Life Sciences
Confidence Score
44%
Source
Scholar Data Model