HMGA2
HMGA2 (High Mobility Group AT-Hook 2) is a protein that in humans is encoded by the HMGA2 gene. This protein is part of the high mobility group (HMG) proteins, which are small, non-histone, chromosomal proteins that play a crucial role in gene regulation, cell differentiation, and cancer.
Function[edit | edit source]
The HMGA2 gene produces a protein that binds to the minor groove of DNA, altering its conformation and promoting the assembly of DNA-binding factors to regulate gene expression. This protein is involved in the regulation of growth and development, and alterations in this gene have been associated with several tumor types, including lipoma, uterine leiomyoma, and pulmonary chondroid hamartoma.
Clinical significance[edit | edit source]
Mutations in the HMGA2 gene have been associated with a variety of benign tumors and related conditions, including lipoma, uterine leiomyoma, pulmonary chondroid hamartoma, and overgrowth syndromes. In addition, HMGA2 is often overexpressed in malignant tumors, suggesting a role in tumorigenesis.
See also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD
