Disease-gene associations mined from literature

Literature associating COL8A2 and epithelial-stromal TGFBI dystrophy

COL8A2 [ENSP00000380901]

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 ...

Linkouts:  STRING  Pharos  UniProt