GeneID: 243



Names

Common Name: NFE2L2 Type: Gene
Chromosome: 2 (NC_000002.12) Locus: N/A
HUGO Symbol: NFE2L2 Full Name: nuclear factor, erythroid 2 like 2
Exons: 5 Introns: 4

Description:
The NRF2 gene encodes a transcription factor (TF), which is a member of a small family of basic leucine zipper (bZIP) proteins. The encoded TF binds to antioxidant response (ARE) elements in the promoter regions of target genes. It plays a critical role in the regulation of cellular oxidative stress response. It was associated with erythroid differentiation and shown to play a direct role in globin gene regulation through modulation of the chromatin structure in the β-globin locus. NRF2-ablation studies in a humanized SCD mouse model have shown reduction in fetal haemoglobin expression during gestational erythropoiesis and severity of the SCD phenotype.Multiple transcript variants encoding different isoforms have been characterized for this gene.

Synonyms: NRF2 , HEBP1 , IMDDHH

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Zhu X, Li B, Pace BS, NRF2 mediates γ-globin gene regulation and fetal hemoglobin induction in human erythroid progenitors., Haematologica , 102(8), e285-e288, 2017 PubMed
  2. Zhu X, Xi C, Thomas B, Pace BS, Loss of NRF2 function exacerbates the pathophysiology of sickle cell disease in a transgenic mouse model., Blood , 131(5), 558-562, 2018 PubMed
Created on 2018-02-27 19:46:02, Last reviewed on (Show full history)


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