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Pedican
Pediatric cancer database
General information | Literature | Expression | Regulation | Mutation | Interaction

Basic Information

Gene ID

2623

Name

GATA1

Synonymous

ERYF1|GATA-1|GF-1|GF1|NFE1|XLTT;GATA binding protein 1 (globin transcription factor 1);GATA1;GATA binding protein 1 (globin transcription factor 1)

Definition

GATA-binding factor 1|NF-E1 DNA-binding protein|erythroid transcription factor|erythroid transcription factor 1|globin transcription factor 1|transcription factor GATA1

Position

Xp11.23

Gene type

protein-coding

Cancer type

Abstract

acute megakaryoblastic leukemia;Hematological

Oligonucleotide array comparative genomic hybridization, karyotype and fluorescence in situ hybridization analyses were employed to delineate the cytogenetic abnormalities in a case of pediatric acute megakaryoblastic leukemia. Here we present a unique genetic profile that includes bi-allelic deletions within 13q14, where the retinoblastoma tumor suppressor gene (RB1) resides, as well as isolated trisomy 21 without a concomitant mutation in the hematopoietic transcription factor GATA1s and translocation (17;22), that does not involve themegakaryoblastic leukemia 1 (MKL1) gene located on chromosome 22. Alteration of the RB1 gene is most likely the critical leukemogenic event in this patient.#CI- Copyright (c) 2011 Wiley-Liss, Inc.

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