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Gene Symbol NFE2
Synonyms NF-E2 | p45
Gene Description NFE2, nuclear factor, erythroid 2, is a transcription factor that is involved in the regulation of heme and globin genes (PMID: 9675875), playing a key role in megakaryocyte and erythroid differentiation and maturation and the formation of platelets (PMID: 24951464, PMID: 11012210, PMID: 17923245). NFE2 mutations have been identified in myeloid sarcoma (PMID: 29191917) and NFE2 overexpression and activating mutations have been associated with myeloproliferative neoplasms (PMID: 23589569).
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