COL8A1

COL8A1 (Collagen Type VIII Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL8A1 include Corneal Dystrophy and Macular Degeneration, Age-Related, 1. Among its related pathways are Integrin Pathway and ERK Signaling. An important paralog of this gene is COL8A2.

Collagen Type VIII Alpha 1 Chain

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.

Angiogenesis Source: UniProtKB-KW
Camera-type eye morphogenesis Source: Ensembl
Cell adhesion Source: UniProtKB-KW
Collagen fibril organization Source: Reactome
Endodermal cell differentiation Source: UniProtKB
Epithelial cell proliferation Source: Ensembl
Extracellular matrix organization Source: GO_Central
Positive regulation of cell-substrate adhesion Source: Ensembl

Basement membrane

Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
Proteolytically cleaved by neutrophil elastase, in vitro. Proteolytic processing produces the C-terminal NC1 domain fragment, vastatin.