- Gene affected:
- IKZF1 - Ikaros family zinc finger 1IKZF1 - Ikaros family zinc finger 1
- Clinical significance
- Somatic mutation of IKFZ1 is frequent in B-lineage ALL particularly where BCR/ABL1 is expressed. In myeloid disease mutation is less common; however, mutation occurs frequently in transformation of MPN (15-20% of cases). Infrequently, germline lesions of the gene may underlie congenital combined immunodeficiencies.
Function of gene
The IKFZ1 protein (Ikaros) is expressed by cells at all stages of hematopoiesis. It is involved in chromatin re-modelling and acts to promote transcription of factors that control both lymphocyte and myeloid development, promoting their differentiation and reducing proliferation. Loss of IKFZ1 function therefore favours formation of more proliferative and less differentiated cells.
NGS panel gene coverage
- GeneWiki link: