Clinical Significance
A mutation in the gene ACVR1 (= ALK2) is responsible for the fibrodysplasia ossificans progressiva. ACVR1 encodes activin receptor type-1, a BMP type-1 receptor. The mutation causes the ACVR1 protein to have the amino acid histidine substituted for the amino acid arginine at position 206. This causes endothelial cells to transform to mesenchymal stem cells and then to bone.
Read more about this topic: ACVR1
Famous quotes containing the word significance:
“For a parent, it’s hard to recognize the significance of your work when you’re immersed in the mundane details. Few of us, as we run the bath water or spread the peanut butter on the bread, proclaim proudly, “I’m making my contribution to the future of the planet.” But with the exception of global hunger, few jobs in the world of paychecks and promotions compare in significance to the job of parent.”
—Joyce Maynard (20th century)