NFE2
NFE2 (Nuclear Factor, Erythroid 2) is a protein that in humans is encoded by the NFE2 gene. It is a transcription factor that plays a crucial role in the regulation of hemoglobin synthesis and the development of erythroid cells.
Function[edit | edit source]
The NFE2 gene encodes a transcription factor that is a subunit of the Nrf2-Maf protein complex. This complex initiates transcription of genes involved in the response to oxidative stress. The NFE2 gene product, p45, is essential for the development of megakaryocytes and platelets.
Clinical significance[edit | edit source]
Mutations in the NFE2 gene have been associated with myeloproliferative disorders, including polycythemia vera, essential thrombocythemia, and myelofibrosis. These disorders are characterized by the overproduction of blood cells, which can lead to an increased risk of blood clot formation.
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References[edit | edit source]
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Contributors: Prab R. Tumpati, MD
