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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.
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Protein Aliases: Collagen alpha-2(VIII) chain; collagen VIII, alpha-2 polypeptide; collagen, type VIII, alpha 2; Endothelial collagen; procollagen type VIII alpha 2; procollagen, type VIII, alpha 2
Gene Aliases: AI429819; COL8A2; FECD; FECD1; PPCD; PPCD2
UniProt ID: (Human) P25067, (Mouse) P25318
Entrez Gene ID: (Human) 1296, (Mouse) 329941
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