COL8A2 (Collagen Type VIII Alpha 2 Chain) is a Protein Coding gene. Diseases associated with COL8A2 include Corneal Dystrophy, Posterior Polymorphous 2 and Corneal Dystrophy, Fuchs Endothelial, 1. Among its related pathways are Phospholipase-C Pathway and Collagen chain trimerization.This gene encodes the alpha 2 chain of type VIII collagen. This protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in COL8A2 are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2.
