Gene GATA2
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Also known as
DCML, IMD21, NFE1B, GATA binding protein 2Overview
GATA2 (GATA Binding Protein 2) encodes a zinc-finger transcription factor essential for hematopoietic stem cell maintenance and differentiation. This protein regulates genes involved in blood cell development and is required for the generation and maintenance of multiple blood cell lineages including stem cells, monocytes, and lymphoid cells.Mutations in GATA2 cause GATA2 deficiency syndrome, characterized by immunodeficiency, lymphedema, myelodysplastic syndrome (MDS), and predisposition to acute myeloid leukemia (AML). Patients typically present with recurrent mycobacterial, viral, or fungal infections due to monocytopenia and lymphopenia. The condition shows variable penetrance and age of onset, with some individuals developing MDS/AML in childhood while others may not manifest disease until adulthood.
Understanding your GATA2 genetic status is critical for individuals with unexplained cytopenias, immunodeficiency, or family history of blood cancers. Early identification enables proactive monitoring and consideration of stem cell transplantation before progression to leukemia.