BMP-1 Antibody – Mouse Monoclonal

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]

Function: 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). Responsible for the proteolytic activation of lysyl oxidase LOX.

Catalytic activity: Cleavage of the C-terminal propeptide at Ala-|-Asp in type I and II procollagens and at Arg-|-Asp in type III.

Cofactor: Binds 1 zinc ion per subunit. Ref.11

Enzyme regulation: Activity is increased by the procollagen C-endopeptidase enhancer protein.

Subunit structure: Interacts with POSTN, the interaction promotes deposition on the extracellular matrix

By similarity.

Subcellular location: Golgi apparatus › trans-Golgi network. Secreted › extracellular space › extracellular matrix. Note: Co-localizes with POSTN in the Golgi

By similarity. Ref.9

Tissue specificity: Ubiquitous.

Post-translational modification: Proteolytically activated in the trans-Golgi network by furin-like/paired basic proprotein convertases, cleavage is not required for secretion.

Involvement in disease: Osteogenesis imperfecta 13 (OI13) [MIM:614856]: An autosomal recessive form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI13 is characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, severe bone deformity, and recurrent fractures affecting both upper and lower limbs.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.13 Ref.14

Sequence similarities: Belongs to the peptidase M12A family.Contains 5 CUB domains.Contains 2 EGF-like domains.