ANTXR2

Anthrax toxin receptor 2 (also known as capillary morphogenesis gene 2 or CMG2) is a protein that in humans is encoded by the ANTXR2 gene.

Mutations in ANTXR2 are associated with infantile systemic hyalinosis and juvenile systemic hyalinosis, both autosomal recessive disorders. Biallelic missense mutations of ANTXR2 have been described in a case report of atypical infantile systemic hyalinosis with intestinal lymphangiectasia causing protein-losing enteropathy. Deuquet et al. (2009) found that three out of four missense mutations in the von Willebrand domain of ANTXR2 identified from cases of infantile systemic hyalinosis resulted in partial or complete retention of the protein in the endoplasmic reticulum (ER) of transfected HeLa cells and anthrax toxin receptor–deficient Chinese hamster ovary cells, as did a mutation in the transmembrane domain. They speculate that, for certain mutations, assisting the proper folding and surface expression of ANTXR2 by chemical chaperones may allow for rescue of phenotype, as these proteins appeared to be relatively stable in the ER without rapid degradation by endoplasmic-reticulum-associated protein degradation.