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IKZF1 encodes the transcription factor IKAROS, a zinc finger protein critical for lymphoid cell development and immune function. It regulates differentiation, proliferation, survival, and apoptosis of lymphocytes. IKZF1 functions as a tumor suppressor, and mutations or deletions are associated with various hematological malignancies, particularly acute lymphoblastic leukemia. Alternative splicing generates multiple isoforms with diverse functions. IKZF1 interacts with various co-factors to modulate chromatin accessibility and gene expression.
IKZF1 regulates gene expression by binding to DNA and recruiting chromatin remodeling complexes, acting as both an activator and repressor of transcription. Mechanisms include interaction with NuRD and Polycomb repressive complex 2, as well as general transcription factors and positive transcription elongation factor b (CDK9).
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