DefinitionThis section has been translated automatically.
The ANTXR2 gene (cytogenetic localization: 4q21.21) encodes a transmembrane protein in which the von Willebrand A (vWA) domain binds to both laminin and collagen IV. The encoded protein plays a role in basement membrane matrix formation and endothelial cell morphogenesis. It also functions as a receptor for anthrax toxin. Mutations in the ANTXR2 gene were detected in the disease pattern of juvenile hyaline fibromatosis.
LiteratureThis section has been translated automatically.
- Mestiri S et al (2014) Juvenile hyaline fibromatosis: a case report. Pathologica. 106:70-72.
- Tang K et al (2016) Juvenile hyaline fibromatosis: report of a rare case at an advanced stage with osteosclerosis and scoliosis. Int J Dermatol doi: 10.1111/ijd.13249.