BMP4 ist ein Gen, das durch das Symbol BMP4 kodiert wird. Andere Namen sind: Bone morphogenetic protein 4; BMP-4; Bone morphogenetic protein 2B; BMP-2B; BMP2B; DVR4. BMP4 hat eine Masse von 46.56kDa, eine Aminosäurelänge von 408, und ist an folgenden Krankheiten beteiligt: Microphthalmia, syndromic, 6; Non-syndromic orofacial cleft 11.
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Gen- und Proteininformationen
UniProt Zusammenfassung
Induces cartilage and bone formation. Also acts in mesoderm induction, tooth development, limb formation and fracture repair. Acts in concert with PTHLH/PTHRP to stimulate ductal outgrowth during embryonic mammary development and to inhibit hair follicle induction (By similarity).
Entrez Zusammenfassung
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates heart development and adipogenesis. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. The encoded protein may also be involved in the pathology of multiple cardiovascular diseases and human cancers.
Gewebespezifität
Expressed in the lung and lower levels seen in the kidney. Present also in normal and neoplastic prostate tissues, and prostate cancer cell lines.
Rolle bei Krankheiten
Microphthalmia, syndromic, 6: A disease characterized by microphthalmia/anophthalmia associated with facial, genital, skeletal, neurologic and endocrine anomalies. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.
Non-syndromic orofacial cleft 11: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.
Sequenzähnlichkeiten
Belongs to the TGF-beta family.
Zellort
Secreted > Extracellular space > Extracellular matrix.
