Gene Symbol | GATA1 |
Entrez Gene ID | 2623 |
Full Name | GATA binding protein 1 |
Synonyms | ERYF1,GATA-1,GF-1,GF1,NF-E1,NFE1,XLANP,XLTDA,XLTT |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 (3); Leukemia, megakaryoblastic, with or without Down syndrome, somatic, 190685 (3); Thrombocytopenia with beta-thalassemia, X-linked, 314050 (3); Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835 (3) |