COL18A1 : collagen type XVIII alpha 1 chain


Description

The COL18A1 (collagen type XVIII alpha 1 chain) is a protein-coding gene located on chromosome 21.

The COL18A1 gene provides instructions for making a protein that forms collagen XVIII. Three COL18A1 proteins, called alpha 1 subunits, attach to each other to form collagen XVIII. Collagen XVIII is found in the basement membranes of tissues throughout the body. Basement membranes are thin, sheet-like structures that separate and support cells in these tissues.There are three versions (isoforms) of the alpha 1 subunit of collagen XVIII, which form three different lengths of the collagen XVIII protein. The short version of collagen XVIII is found in basement membranes throughout the body, including several parts of the eye. The two longer versions are found primarily in the liver. In addition, a piece of collagen XVIII can be cut off to form the protein endostatin. Endostatin is able to block the formation of blood vessels (angiogenesis) and is known as an anti-angiogenic factor.Little is known about the function of collagen XVIII, but it appears that all of the isoforms are involved in normal development of the eye.

COL18A1 is also known as GLCC, KNO, KNO1, KS.

Associated Diseases


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