Gene Detail


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Gene Symbol GATA1
Synonyms ERYF1 | GATA-1 | GF-1 | GF1 | HAEADA | NF-E1 | NFE1 | XLANP | XLTDA | XLTT
Gene Description GATA1, GATA binding protein 1, is both a transcriptional activator and repressor, which plays a critical role in erythroid maturation and development (PMID: 32283524), and is expressed as short and long isoforms (PMID: 31769197). GATA1 mutations are associated with megakaryocyte leukemia in Down Syndrome (PMID: 25435116; PMID: 24880866, PMID: 32238463, PMID: 31769932) and other myeloproliferative diseases (PMID: 32094462).
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