Gene Symbol | COL8A1 |
Entrez Gene ID | 1295 |
Full Name | collagen type VIII alpha 1 chain |
Synonyms | C3orf7 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Dec 2011]. |
Disorder MIM: |