靶标:
COL8A2
产品别名:
FECD; FECD1; PPCD; PPCD2; COL8A2; collagen type VIII alpha 2 chain; collagen type VIII alpha 2 chain; collagen alpha-2(VIII) chain; collagen VIII, alpha-2 polypeptide; collagen, type VIII, alpha 2; endothelial collagen; Ⅷ型胶原α2(COL8a2);
背景信息:
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],