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].
Okumura, Minamiyama, Ho, Kay, Kawasaki, Tourtas, Schlötzer-Schrehardt, Kruse, Young, Quantock, Kinoshita, Koizumi: "Involvement of ZEB1 and Snail1 in excessive production of extracellular matrix in Fuchs endothelial corneal dystrophy." in: Laboratory investigation; a journal of technical methods and pathology, Vol. 95, Issue 11, pp. 1291-304, (2015) (PubMed).
De Zeeuw, Hoogenraad, Goedknegt, Hertzberg, Neubauer, Grosveld, Galjart: "CLIP-115, a novel brain-specific cytoplasmic linker protein, mediates the localization of dendritic lamellar bodies." in: Neuron, Vol. 19, Issue 6, pp. 1187-99, (1998) (PubMed).
Aliases for COL8a2 抗体
collagen type VIII alpha 2 chain (COL8A2) 抗体 collagen, type VIII, alpha 2 (Col8a2) 抗体 collagen type VIII alpha 2 chain (Col8a2) 抗体 AI429819 抗体 FECD 抗体 FECD1 抗体 PPCD 抗体 PPCD2 抗体