CMG2 encodes a protein upregulated in endothelial cells during capillary formation and was recently shown to function as an anthrax-toxin receptor. CMG2 mutations abrogate normal cell interactions with the extracellular matrix.
Pathology
Mutations in capillary mprphogenesis gne-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis (12973667, 12934200)