Bone Morphogenetic Protein 4 (BMP4) Recombinant Protein

The protein encoded by this gene is a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The superfamily includes large families of growth and differentiation factors. Bone morphogenetic proteins were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. This particular family member plays an important role in the onset of endochondral bone formation in humans, and a reduction in expression has been associated with a variety of bone diseases, including the heritable disorder Fibrodysplasia Ossificans Progressiva. Alternative splicing in the 5' untranslated region of this gene has been described and three variants are described, all encoding an identical protein. [provided by RefSeq]

Function: Induces cartilage and bone formation. Also act 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

Subunit structure: Homodimer; disulfide-linked

By similarity. Interacts with GREM2

By similarity and SOSTDC1. Part of a complex consisting of TWSG1 and CHRD

By similarity. Ref.5

Subcellular location: Secreted › extracellular space › extracellular matrix.

Tissue specificity: Expressed in the lung and lower levels seen in the kidney. Present also in normal and neoplastic prostate tissues, and prostate cancer cell lines.

Involvement in disease: Defects in BMP4 are the cause of microphthalmia syndromic type 6 (MCOPS6) [

MIM:607932]; also known as microphthalmia and pituitary anomalies or microphthalmia with brain and digit developmental anomalies. Microphthalmia is a clinically heterogeneous 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. MCOPS6 is characterized by microphthalmia/anophthalmia associated with facial, genital, skeletal, neurologic and endocrine anomalies. Ref.7Defects in BMP4 are the cause of non-syndromic orofacial cleft type 11 (OFC11) [

MIM:600625]. Non-syndromic orofacial cleft is a common 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. OFC11 is an unusual anomaly consisting of a paramedian scar of the upper lip with an appearance suggesting that a typical cleft lip was corrected in utero. Ref.9

Sequence similarities: Belongs to the TGF-beta family.