BMP4
BMP4[edit | edit source]
BMP4, or Bone Morphogenetic Protein 4, is a protein that in humans is encoded by the BMP4 gene. BMP4 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.
Function[edit | edit source]
BMP4 is a polypeptide which is highly conserved across species. It is involved in a range of biological activities including cell growth, apoptosis, morphogenesis, development and immune response. BMP4 is known for its ability to induce bone and cartilage development. It is expressed in various tissues and organs including the lung, spleen, and ovary.
Clinical Significance[edit | edit source]
Mutations in the BMP4 gene are associated with a variety of disorders including eye disorders, orofacial clefting, and kidney disorders. BMP4 plays a crucial role in the formation of the eye and mutations in this gene can lead to microphthalmia, a condition characterized by abnormally small eyes. Similarly, mutations in BMP4 can also lead to orofacial clefting, a condition where there is a split or opening in the lip and/or roof of the mouth. BMP4 is also involved in kidney development and mutations can lead to kidney disorders.
Research[edit | edit source]
Research into BMP4 has increased our understanding of its role in development and disease. It has been found to play a crucial role in the development of the heart, brain, lungs, and kidneys. In addition, it has been implicated in a variety of diseases including cancer, diabetes, and obesity.
See Also[edit | edit source]
- Bone morphogenetic protein
- Transforming growth factor-beta
- Microphthalmia
- Orofacial clefting
- Kidney disorders
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD