IKZF1
Description
The IKZF1 (IKAROS family zinc finger 1) is a protein-coding gene located on chromosome 7.
The IKZF1 gene encodes the Ikaros protein, a DNA-binding transcription factor crucial for hematopoiesis. Ikaros plays a key role in the development of immune cells, particularly early B cells and CD4+ T cells. Its dysfunction is associated with the development of chronic lymphocytic leukemia. Ikaros acts as a tumor suppressor in human B-cell acute lymphoblastic leukemia and influences the differentiation and function of individual T helper cells. Ikaros also participates in the later stages of B cell development during VDJ recombination and switch class of antibody isotypes. In knockout mice, T cells, but not B cells, are generated late in development due to compensatory expression of the related gene Aiolos (IKZF3). Point mutant mice exhibit embryonic lethality due to anemia and severe defects in terminal erythrocyte and granulocyte differentiation, alongside excessive macrophage formation. Genetic variations near the 3' region of IKZF1 in humans have been linked to susceptibility to childhood acute lymphoblastic leukemia (ALL) and type 1 diabetes.
IKZF1 regulates the development and differentiation of hematopoietic cells, particularly lymphocytes (B and T cells). It binds to gamma-satellite DNA and activates the enhancer (delta-A element) of the CD3-delta gene. IKZF1 also acts as a repressor of the TDT gene during thymocyte differentiation. It regulates transcription through association with both HDAC-dependent and HDAC-independent complexes and targets two chromatin-remodeling complexes, NuRD and BAF, to the beta-globin locus in adult erythrocytes. IKZF1 promotes normal apoptosis in adult erythroid cells and contributes to the early temporal competence of retinal progenitor cells.
IKZF1 is also known as CVID13, Hs.54452, IK1, IKAROS, LYF1, LyF-1, PPP1R92, PRO0758, ZNFN1A1.
