Wilms tumor 1 (WT1) is a transcription factor with C-terminal zinc-finger motifs and an N-terminal proline/glutamine-rich DNA-binding domain. WT1 gene is mapped to human chromosome 11p13. WT1 expression occurs in the spleen, kidneys, gonads, and abdominal cavity lining during vertebrate development. WT1 exists as multiple transcript variants, resulting from alternative splicing at two coding exons. Evidence suggests the use of non-AUG (CUG) translation initiation site upstream of, and in-frame with the first AUG, leading to additional isoforms.
Wilms tumor 1 (WT1) participates in the homeostasis of the adrenal glands and gonads. WT1 functions as an oncogene and its expression are observed in a majority of tumors associated with neuronal, hematopoietic, epithelial, and mesenchymal tissues. It serves as a target for cancer immune therapy. WT1 displays a tumor suppressor role in acute myeloid leukemia (AML). Mutations in the WT1 gene is also implicated in the pathophysiology of Denys-Drash syndrome (DDS) and Frasier syndrome (FS).