COL8A2 Antibody – Rabbit Polyclonal

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]

COL8A2: Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also component of the endothelia of blood vessels. Necessary for migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall integrity and structure, in particular in atherogenesis. Defects in COL8A2 are the cause of corneal dystrophy Fuchs endothelial type 1 (FECD1). It is an ocular disorder caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. Defects in COL8A2 are the cause of posterior polymorphous corneal dystrophy type 2 (PPCD2). PPCD is a rare bilateral familial disorder of the corneal epithelium, and is inherited in a autosomal dominant pattern. The clinical features usually present earlier than FECD, being from birth onwards. The disorder is characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit- lamp examination and specular microscopy. Affected patient typically are asymptomatic.

Protein type: Extracellular matrix; Secreted, signal peptide; Secreted

Chromosomal Location of Human Ortholog: 1p34.2

Cellular Component: extracellular matrix; proteinaceous extracellular matrix; collagen; endoplasmic reticulum lumen; extracellular region; basement membrane

Molecular Function: protein binding, bridging; extracellular matrix structural constituent

Biological Process: collagen catabolic process; extracellular matrix disassembly; cell-cell adhesion; epithelial cell proliferation; extracellular matrix organization and biogenesis; camera-type eye morphogenesis; angiogenesis

Disease: Corneal Dystrophy, Posterior Polymorphous, 2; Corneal Dystrophy, Fuchs Endothelial, 1