The GATA1 gene homepage
| General information |
| Gene symbol |
GATA1 |
| Gene name |
GATA binding protein 1 |
| Chromosome |
X |
| Chromosomal band |
p11.23 |
| Imprinted |
Unknown |
| Genomic reference |
NG_008846.2 |
| Transcript reference |
NM_002049.3 |
| Associated with diseases |
WD |
| Citation reference(s) |
- |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
7 |
| Unique public DNA variants reported |
7 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
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] |
| Date created |
February 02, 2018 |
| Date last updated |
April 23, 2019 |
| Version |
GATA1:190423 |
Active transcripts
| Copyright & disclaimer |
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided. |
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