- Gene affected: NFE2 - Nuclear Factor, Erythroid 2,
- Clinical significance
- 'A relatively infrequently mutated gene linked particularly to myeloproliferation; the significance to prognosis is not described at present.
Function of gene
Controls transcription of a large number of target genes with particular importance in hematopoietic cells together with transcription factors such as GATA1 and RUNX1, controlling megakaryocytic and/or erythroid cell function. Knockout mouse models have a defect in megakaryocyte formation with severely impaired platelet production.
NGS panel gene coverage
- GeneWiki link: