BMP1 ist ein Gen, das durch das Symbol BMP1 kodiert wird. Andere Namen sind: Bone morphogenetic protein 1; BMP-1; Mammalian tolloid protein; mTld; Procollagen C-proteinase; PCP; PCOLC. BMP1 hat eine Masse von 111.25kDa, eine Aminosäurelänge von 986, und ist an Osteogenesis imperfecta 13 beteiligt.
Wir bieten 8 antikörper gegen BMP1, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC, ELISA and IP mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
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.
Entrez Zusammenfassung
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.
Gewebespezifität
Ubiquitous.
Rolle bei Krankheiten
Osteogenesis imperfecta 13: 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.
Posttranslationale Modifikation
Proteolytically activated in the trans-Golgi network by furin-like/paired basic proprotein convertases, cleavage is not required for secretion.
Zellort
Golgi apparatus > trans-Golgi network. Secreted > Extracellular space > Extracellular matrix.
Co-localizes with POSTN in the Golgi.
