This gene encodes the alpha 2 chain of type VIII collagen. The 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. [provided by RefSeq, Dec 2009].
Coghlan, Oberdorf, Sienko, Aiona, Boston, Connelly, Bahney, LaRouche, Almubarak, Coleman, Girkontaite, von der Mark, Lunstrum, Horton: "A degradation fragment of type X collagen is a real-time marker for bone growth velocity." in: Science translational medicine, Vol. 9, Issue 419, (2018) (PubMed).
Aliases for COL8a2 蛋白
collagen type VIII alpha 2 chain (COL8A2) 蛋白 collagen, type VIII, alpha 2 (Col8a2) 蛋白 collagen type VIII alpha 2 chain (Col8a2) 蛋白 AI429819 蛋白 FECD 蛋白 FECD1 蛋白 PPCD 蛋白 PPCD2 蛋白