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:
“To grasp the full significance of life is the actor’s duty, to interpret it is his problem, and to express it his dedication.”
—Marlon Brando (b. 1924)