DISEASES

Disease-gene associations mined from literature

Literature on IKZF1

IKZF1 [ENSP00000331614]

DNA-binding protein Ikaros; Transcription regulator of hematopoietic cell differentiation . Binds gamma-satellite DNA (PubMed:17135265, PubMed:19141594). Plays a role in the development of lymphocytes, B- and T-cells. Binds and activates the enhancer (delta-A element) of the CD3-delta gene. Repressor of the TDT (fikzfterminal deoxynucleotidyltransferase) gene during thymocyte differentiation. Regulates transcription through association with both HDAC-dependent and HDAC-independent complexes. Targets the 2 chromatin-remodeling complexes, NuRD and BAF (SWI/SNF), in a single complex (PYR complex), to the beta-globin locus in adult erythrocytes. Increases normal apoptosis in adult erythroid cells. Confers early temporal competence to retinal progenitor cells (RPCs) (By similarity). Function is isoform-specific and is modulated by dominant-negative inactive isoforms . ECO:0000269|PubMed:17135265, ECO:0000269|PubMed:17934067,; Belongs to the Ikaros C2H2-type zinc-finger protein family.

Synonyms:  IKZF1,  IKZF1p,  hIKZF1,  A0A087WU46,  A0A0A0MRA0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM