The ANTXR2 gene (ANTXR stands for anthrax cell adhesion molecule 2) is a protein-coding gene located on chromosome 4q21.21.
The ANTXR2 gene encodes a receptor for anthrax toxin. The receptor protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Several transcript variants encoding different isoforms have been found for this gene.
Mutations in this gene cause the
- juvenile hyaline fibromatosis
and
- infantile systemic hyalinosis (a particularly severe variant of juvenile hyaline fibromatosis.