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FLASH GENE

Symbol

GATA1

contributors: mct/ - updated : 07-03-2017

HGNC name	GATA binding protein 1 (globin transcription factor 1)
HGNC id	4170

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CDATX , CEPX , AMKLDS , XLTT

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral somatic mutation       in acute megakaryoblastic leukemia of Down syndrome constitutional germinal mutation       mutation, 332G --> C, in exon 2 of GATA1, leading to the synthesis of only the short isoform, leading by normal male to macrocytic anemia, normal platelet counts and neutropenia tumoral somatic mutation       associated with the myeloproliferative syndrome, transient (TAM) and the acute megakaryoblastic leukemia (AMKL) of Down syndrome tumoral fusion       MYB-GATA1 fusion gene in acute basophilic leukemia

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer digestive liver GATA1-mediated ARHGAP18 might be a potential therapeutic target for HCC

ANIMAL & CELL MODELS

mice deficient in Gata1, transcription factors required for normal megakaryocyte (MK) development, have increased numbers of MKs, reduced numbers of platelets