ANTXR2

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 morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis (12973667, 12934200)

References

 Deuquet, J., Abrami, L., Difeo, A., Ramirez, M. C. M., Martignetti, J. A., van der Goot, F. G. Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum. Hum. Mutat. 30: 583-589, 2009. [PubMed: 19191226]

 Dowling, O., Difeo, A., Ramirez, M. C., Tukel, T., Narla, G., Bonafe, L., Kayserili, H., Yuksel-Apak, M., Paller, A. S., Norton, K., Teebi, A. S., Grum-Tokars, V., Martin, G. S., Davis, G. E., Glucksman, M. J., Martignetti, J. A. Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am. J. Hum. Genet. 73: 957-966, 2003. [PubMed: 12973667]

 Hanks, S., Adams, S., Douglas, J., Arbour, L., Atherton, D. J., Balci, S., Bode, H., Campbell, M. E., Feingold, M., Keser, G., Kleijer, W., Mancini, G., and 9 others. Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am. J. Hum. Genet. 73: 791-800, 2003. [PubMed: 14508707]