Home > A. Molecular pathology > ANTXR2

ANTXR2

Monday 22 September 2003

capillary morphogenesis factor-2 gene; CMG2

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#]