| Structural highlights
8egw is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
| | Method: | X-ray diffraction, Resolution 2.3Å |
| Ligands: | BMA, CA, CAC, EDO, FUC, MAN, NAG |
| Resources: | FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT |
Disease
PCD16_HUMAN Familial mitral valve prolapse;Cerebrofacioarticular syndrome. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry.
Function
PCD16_HUMAN Calcium-dependent cell-adhesion protein. Mediates functions in neuroprogenitor cell proliferation and differentiation. In the heart, has a critical role for proper morphogenesis of the mitral valve, acting in the regulation of cell migration involved in valve formation (PubMed:26258302).[1]
References
- ↑ Durst R, Sauls K, Peal DS, deVlaming A, Toomer K, Leyne M, Salani M, Talkowski ME, Brand H, Perrocheau M, Simpson C, Jett C, Stone MR, Charles F, Chiang C, Lynch SN, Bouatia-Naji N, Delling FN, Freed LA, Tribouilloy C, Le Tourneau T, LeMarec H, Fernandez-Friera L, Solis J, Trujillano D, Ossowski S, Estivill X, Dina C, Bruneval P, Chester A, Schott JJ, Irvine KD, Mao Y, Wessels A, Motiwala T, Puceat M, Tsukasaki Y, Menick DR, Kasiganesan H, Nie X, Broome AM, Williams K, Johnson A, Markwald RR, Jeunemaitre X, Hagege A, Levine RA, Milan DJ, Norris RA, Slaugenhaupt SA. Mutations in DCHS1 cause mitral valve prolapse. Nature. 2015 Sep 3;525(7567):109-13. PMID:26258302 doi:10.1038/nature14670
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