COL8A2 : collagen type VIII alpha 2 chain

Description

The COL8A2 (collagen type VIII alpha 2 chain) is a protein-coding gene located on chromosome 1.

The COL8A2 gene provides instructions for making a component of type VIII collagen called alpha 2(VIII) collagen. Type VIII collagen is primarily found in the front surface of the eye, the cornea, where it is a major component of Descemet's membrane, a tissue at the back of the cornea. This membrane is a thin, sheet-like structure that separates and supports corneal endothelium cells, which regulate the amount of fluid in the cornea. Proper fluid balance in the cornea is essential for clear vision. To form type VIII collagen, one subunit of the alpha 2(VIII) collagen protein interacts with two subunits of another protein called alpha 1(VIII) collagen. These three proteins twist together to form a triple-stranded, rope-like molecule known as procollagen. Procollagen molecules are secreted by the cell and processed by enzymes to remove extra protein segments from the ends. Once these molecules are processed, they arrange themselves into long, thin bundles of mature type VIII collagen.

COL8A2 encodes for a protein that is a major component of Descemet's membrane, a structure in the cornea that helps regulate fluid balance and maintain clear vision. It is also found in the endothelium of blood vessels, where it plays a role in the migration and proliferation of vascular smooth muscle cells. This function suggests that COL8A2 may contribute to the maintenance of vessel wall integrity and structure, potentially influencing atherogenesis.

COL8A2 is also known as FECD, FECD1, PPCD, PPCD2.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing