MESP2
MESP2 (Mesoderm posterior protein 2) is a protein that in humans is encoded by the MESP2 gene. This protein is a key regulator in the segmentation process of the embryo during embryogenesis.
Function[edit | edit source]
MESP2 is a member of the bHLH (basic helix-loop-helix) family of transcription factors. It plays a crucial role in the establishment of the somite segmentation of the paraxial mesoderm. The protein is expressed in the anterior presomitic mesoderm (PSM) and induces the expression of several genes, including Lunatic fringe (Lfng), which is involved in the Notch signaling pathway.
Clinical significance[edit | edit source]
Mutations in the MESP2 gene are associated with spondylocostal dysostosis, a rare genetic disorder characterized by abnormalities in the vertebrae and ribs. Patients with this condition have short stature, abnormal curvature of the spine (scoliosis), and unusual placement of the ribs.
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References[edit | edit source]
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Contributors: Prab R. Tumpati, MD
