Structural highlights
Disease
[GATA2_HUMAN] Deafness-lymphedema-leukemia syndrome;Inherited acute myeloid leukemia;Myelodysplastic syndrome;Monocytopenia with susceptibility to infections. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry.
Function
[GATA2_HUMAN] Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells. Binds to the consensus sequence 5'-AGATAG-3'.
