GENETIC ENCYCLOPEDIA
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gene: COL8A2

id1296
symbolCOL8A2
organismHomo sapiens
full namecollagen type VIII alpha 2 chain
summaryThis 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]
variant-disease

NM_005202.4(COL8A2):c.1363C>A (p.Gln455Lys) AND Corneal dystrophy, Fuchs endothelial 1

NM_005202.4(COL8A2):c.1349T>G (p.Leu450Trp) AND Corneal dystrophy, Fuchs endothelial 1

NM_001294347.2(COL8A2):c.1168_1169delinsGT (p.Gln390Val) AND Corneal dystrophy, Fuchs endothelial 1

NM_005202.4(COL8A2):c.1363C>A (p.Gln455Lys) AND Corneal dystrophy, posterior polymorphous, 2

NM_005202.4(COL8A2):c.1349T>G (p.Leu450Trp) AND Corneal dystrophy, posterior polymorphous, 2

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