{"symbol":"COL8A2","synonyms":["PPCD2","FECD","FECD1","PPCD"],"name":"collagen, type VIII, alpha 2","description":"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 this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]","ncbiEntrezGeneId":1296,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/1296","proteins":[{"symbol":"CO8A2_HUMAN","href":"/api/1.0/protein/CO8A2_HUMAN"}],"hgncRootFamilies":[{"name":"Collagens (COL)","href":"/api/1.0/gene_family/Collagens+%28COL%29"}]}