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GATA1 GATA binding protein 1

Gene ID: 2623, updated on 26-Feb-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]

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

Links

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