Gene Symbol | COL8A2 |
Entrez Gene ID | 1296 |
Full Name | collagen type VIII alpha 2 chain |
Synonyms | FECD,FECD1,PPCD,PPCD2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Corneal dystrophy, Fuchs endothelial, 1, 136800 (3); Corneal dystrophy, posterior polymorphous 2, 609140 (3) |