Aliases for COL8A1 Gene
External Ids for COL8A1 Gene
Previous HGNC Symbols for COL8A1 Gene
Previous GeneCards Identifiers for COL8A1 Gene
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]
GeneCards Summary for COL8A1 Gene
COL8A1 (Collagen Type VIII Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL8A1 include Corneal Endothelial Dystrophy and Corneal Dystrophy. Among its related pathways are ERK Signaling and Collagen chain trimerization. An important paralog of this gene is COL8A2.
UniProtKB/Swiss-Prot Summary for COL8A1 Gene
Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also component of the endothelia of blood vessels. Necessary for migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall integrity and structure, in particular in atherogenesis.
Vastatin, the C-terminal fragment comprising the NC1 domain, inhibits aortic endothelial cell proliferation and causes cell apoptosis.