Biomarkers /

GATA1

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Associated Genetic Biomarkers
Associated Diseases

Overview

Location [1]
Xp11.23
Synonyms [1]
XLTT, GF1, NFE1, ERYF1, GF-1, GATA-1, XLTDA, NF-E1, XLANP

GATA binding protein 1 (GATA1) is a gene that encodes a transcription factor protein that is a member of the GATA family. The protein functions in regulating the change in fetal hemoglobin to adult hemoglobin. Missense mutations, nonsense mutations, silent mutations, frameshift insertions and deletions, and in-frame insertions and deletions are observed in cancers such as endometrial cancer, hematopoietic and lymphoid cancers, and intestinal cancer

Clinical Trials

View Clinical Trials for GATA1

Significance of GATA1 in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndrome With Excess Blasts-2 +

Myeloid Neoplasm +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.