Bone Morphogenetic Protein 1 (BMP1) Antibody – Rabbit Polyclonal

This gene encodes a metalloproteinase that plays an essential role in the formation of the extracellular matrix and is also able to induce ectopic bone formation. Unlike other bone morphogenetic proteins, the protein encoded by this gene is not closely related to transforming growth factor-beta. This protein plays in role several developmental processes. In humans, mutations in this gene are associated with osteogenesis imperfecta and with increased bone mineral density and multiple recurrent fractures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

BMP1: Cleaves the C-terminal propeptides of procollagen I, II and III. Induces cartilage and bone formation. May participate in dorsoventral patterning during early development by cleaving chordin (CHRD). Defects in BMP1 are a cause of autosomal recessive osteogenesis imperfecta (AR-OI). A connective tissue disorder characterized by bone fragility, progressively deforming bones, bowing of limbs due to multiple fractures, very short stature, a triangular face, severe scoliosis, and grayish sclera. AR-OI due to BMP1 mutations belongs to the group of osteogenesis imperfecta type III in the Sillence classification. Belongs to the peptidase M12A family. 7 isoforms of the human protein are produced by alternative splicing.

Protein type: Protease; EC 3.4.24.19; Cytokine

Cellular Component: Golgi apparatus; proteinaceous extracellular matrix; extracellular space; extracellular region

Molecular Function: peptidase activity; protein binding; growth factor activity; zinc ion binding; metallopeptidase activity; hydrolase activity; metal ion binding; metalloendopeptidase activity; cytokine activity; calcium ion binding

Biological Process: ossification; cartilage development; multicellular organismal development; cell differentiation; proteolysis