BMP1 Antibody – Rabbit Polyclonal

This gene encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, this gene encodes a protein that is not closely related to other known growth factors. This gene is expressed as alternatively spliced variants that share an N-terminal protease domain but differ in their C-terminal region. [provided by RefSeq, Aug 2008]

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: Cytokine; EC 3.4.24.19; Protease

Chromosomal Location of Human Ortholog: 8p21.3

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

Molecular Function: calcium ion binding; cytokine activity; growth factor activity; metalloendopeptidase activity; metallopeptidase activity; peptidase activity; protein binding; serine-type endopeptidase activity; transforming growth factor beta receptor binding; zinc ion binding

Biological Process: BMP signaling pathway; cartilage condensation; cell development; extracellular matrix disassembly; lipoprotein metabolic process; multicellular organismal development; ossification; proteolysis; regulation of apoptosis; regulation of MAPKKK cascade; skeletal development

Disease: Osteogenesis Imperfecta, Type Xiii