Literature associating COL8A2 and brittle cornea syndrome 1
Collagen alpha-2(VIII) chain; Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also component of the endothelia of blood vessels. Necessary for migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall integrity and structure, in particular in atherogenesis (By similarity); Collagens
Synonyms: COL8A2, COL8A2p, hCOL8A2, E9PP49, P25067 ...