免疫原
Synthesized peptide derived from human COL8A2. at AA range: 611-660
特异性
COL8A2 Monoclonal Antibody detects endogenous levels of COL8A2
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
其他名称
Collagen alpha-2(VIII) chain (Endothelial collagen)
背景
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],
功能
disease:Defects in COL8A2 are a cause of Fuchs endothelial corneal dystrophy (FECD) [MIM:136800]. FECD is the commonest primary disorder of the corneal endothelium in developed countries. Symptoms of painful visual loss result from corneal decompensation. Signs may be present from the fourth decade of life onwards. Tipically, focal wart-like guttata arising from Descemet membrane develops in the central cornea; Descemet membrane is thickened by abnormal collagenous deposition. FECD is usually sporadic but familial highly penetrant forms showing autosomal dominant inheritance are also recognized.,disease:Defects in COL8A2 are a cause of posterior polymorphous corneal dystrophy (PPCD) [MIM:122000]. PPCD is a slowly progressive hereditary disorder of the corneal endothelium that leads to a variable degree of visual impairment usually in adulthood. PPCD is usually inherited as an autosomal d
