CIDeRplusGeneral Information:
| Id: | 9,701 (click here to show other Interactions for entry) |
| Diseases: |
Cardiovascular disease
Ciliopathy |
| Mammalia | |
| review | |
| Reference: | Klena NT et al.Cilia and Ciliopathies in Congenital Heart Disease [PMID: 28159874] |
Interaction Information:
| Comment | Unexpected was the recovery of 10 CHD genes involved in vesicular trafficking. This included Dynamin 2 and Ap2b1 required for clathrin-mediated endocytosis, adaptin proteins Ap1b1 and Ap2b1, and Lrp1, Lrp2, and Snx17 mediating endocytic receptor recycling. Significantly, vesicular trafficking plays an essential role in cilia biology, with ciliogenesis initiated with capture of a ciliary vesicle by the mother centriole followed by docking of the basal body to the cell membrane and fusion of additional secondary vesicles that allow lengthening of the ciliary axoneme. Vesicular trafficking and receptor recycling also play important roles in the regulation of cell signaling. Although the endocytic pathway was not previously known to play a role in CHD, its importance can be easily appreciated in the context of its role in regulating ciliogenesis and cilia-transduced cell signaling. |
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Formal Description Interaction-ID: 102498 |
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