Bone 2020 Sep 5;138:115469. Epub 2020 Jun 5.
Project of Clinical and Basic Research for FOP, Saitama Medical University, Saitama, Japan; Division of Biomedical Sciences, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan. Electronic address:
The human ACVR1 gene encodes a transmembrane protein consisting of 509 amino acids called activin A receptor, type I (ACVR1) or activin receptor-like kinase 2 (ALK2) and has nine coding exons. The ALK2 protein functions as a signaling receptor for ligands of the transforming growth factor-β family. In the human ACVR1 gene, approximately 20 types of heterozygotic mutations in the coding exons have been associated with congenital disorders and somatic cancer, such as fibrodysplasia ossificans progressiva (FOP), diffuse intrinsic pontine glioma, diffuse idiopathic skeletal hyperostosis and some congenital heart disorders. Read More