This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Duplication of a regulatory region downstream of this gene causes a form of brachydactyly characterized by a malformed index finger and second toe in human patients. [provided by RefSeq, Jul 2016]
Alternative Names
2610024H22Rik AL117858 AW546137 BB189135 BMP BMP-2 BMP-2A BMPR-II BMPRII Bone morphogenetic Bone morphogenetic protein bone morphogenetic protein 2A H-BMP-2 osteogenic protein 2