COL8A1
Description
The COL8A1 (collagen type VIII alpha 1 chain) is a protein-coding gene located on chromosome 3.
COL8A1 gene encodes one of the two alpha chains of type VIII collagen, a short chain collagen that is a major component of the basement membrane of the corneal endothelium. The gene product can form either homo- or heterotrimers. Multiple transcript variants encoding the same isoform have been identified.
COL8A1 protein is a key component of the subendothelial layer, particularly the Descemet's membrane, a basement membrane found beneath corneal endothelial cells. It is also present in the endothelia of blood vessels, playing a vital role in vascular smooth muscle cell migration and proliferation. This function contributes to the maintenance of vessel wall integrity and structure, especially in relation to atherogenesis, the development of atherosclerosis.
COL8A1 is also known as C3orf7.
