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COL8A2

Official Full Name
collagen type VIII alpha 2 chain
Organism
Homo sapiens
GeneID
1296
Background
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]
Synonyms
FECD; PPCD; FECD1; PPCD2;

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