ANTXR2

The ANTXR2 gene provides instructions for making a protein called anthrax toxin receptor 2 (ANTXR2). This protein is involved in the formation of tiny blood vessels (capillaries). Researchers believe that the ANTXR2 protein is also important for maintaining the structure of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. This protein is called anthrax toxin receptor 2 because it allows the toxin that causes anthrax to attach to cells and trigger disease.

infantile systemic hyalinosis - caused by mutations in the ANTXR2 gene

At least 10 mutations in the ANTXR2 gene have been shown to cause infantile systemic hyalinosis. These mutations most likely disrupt the formation of basement membranes, allowing a clear (hyaline) substance to leak through and accumulate in various parts of the body.

juvenile hyaline fibromatosis - caused by mutations in the ANTXR2 gene

Approximately 10 mutations in the ANTXR2 gene have been shown to cause juvenile hyaline fibromatosis. These mutations also lead to the production of an abnormally functioning ANTXR2 protein that is believed to disrupt basement membrane formation.

It is not known why some mutations in this gene cause infantile systemic hyalinosis and others cause the less severe juvenile hyaline fibromatosis. Some research has shown that the mutations responsible for these two diseases tend to occur in different regions of the gene.