Hyaline Fibromatosis Syndrome
Model of the ectodomain of CMG2
Hyaline Fibromatosis Syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors.
Hyaline Fibromatosis Syndrome (HFS) is a human genetic disease caused by mutations in the anthrax toxin receptor 2 (or cmg2) gene, which encodes a
membrane protein thought to be involved in the homeostasis of the extracellular matrix. Little is known about the structure and function of the protein and the genotype–phenotype relationship of the disease. Through the analysis of four patients, the group of Prof. G. van der Goot (VDG - van der Goot lab) identify three novel mutants and determine their effects at the cellular level.
Julie Deuquet et al. EMBO Molecular Medicine DOI: 10.1002/emmm.201100124 (2011)