GATA proteins are transcriptional coactivators with two GATA-type zinc fingers. GATAs bind to the consensus DNA sequence (A/T) GATA (A/G) to control diverse tissue-specific programs of gene expression and morphogenesis. GATA-1, -2, -3 are selectively expressed in hematopoietic and endothelial cells, while GATA-4, -5, and -6 are expressed in developing heart and gut-derived tissues. GATA-1 and -3 exist in multiple alternatively spliced isoforms.
Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. Acquired somatic mutations in GATA1 occur in virtually all children with Down's Syndrome, congenital transient myeloproliferative syndrome (TMD) and acute megakaryocytic leukemia.
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