- Gene affected:
- GATA1 - GATA-binding factor 1 (Erythroid transcription factor)
- Clinical significance
- GATA1 is important in leukaemia and transient abnormal myelopoiesis in Down Syndrome. It is also associated with Diamond Blackfan syndrome (although most have mutations affecting ribosome formation genes (RPS19)
Function of gene
GATA1 regulates the expression of several genes that promote the maturation of erythroblasts, and of platelets from megakaryoblasts, promegakaryocytes, and megakaryocytes. GATA1 function is required for the development of erythroid and megakaryocytic lineages (loss in mouse embryo-derived stem cells causes a complete lack of primitive erythroid precursor).
NGS panel gene coverage
- GeneWiki link: