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: EC 3.4.24.19; Protease; Cytokine

Chromosomal Location of Human Ortholog: 8p21.3

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

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

Biological Process: extracellular matrix disassembly; ossification; extracellular matrix organization and biogenesis; multicellular organismal development; lipoprotein metabolic process; proteolysis; cell differentiation; skeletal development; cartilage condensation

Disease: Osteogenesis Imperfecta, Type Xiii