GATA1 GATA binding protein 1

Gene ID: 2623, updated on 17-Sep-2024
Gene type: protein coding
Also known as: GF1; GF-1; NFE1; XLTT; ERYF1; NF-E1; XLANP; XLTDA; GATA-1; HAEADA

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Beta-thalassemia-X-linked thrombocytopenia syndrome MedGen: C1839161OMIM: 314050GeneReviews: GATA1-Related Cytopenia	See labs
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis MedGen: C1845837GeneReviews: GATA1-Related Cytopenia	See labs
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction MedGen: C1863235OMIM: 301083GeneReviews: Not available	See labs
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia MedGen: C3550789OMIM: 300367GeneReviews: GATA1-Related Cytopenia	See labs
Transient myeloproliferative syndrome MedGen: C1834582OMIM: 159595GeneReviews: Not available	not available
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia MedGen: C3550856OMIM: 300835GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2020-10-14) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2020-10-14) ClinGen Genome Curation Page

Genomic context

Location:: Xp11.23

Sequence:: Chromosome: X; NC_000023.11 (48786590..48794311)

Total number of exons:: 6

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for GATA1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
GATA1 @ LOVD
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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