[5][6][7][8] This gene encodes a transcription factor that contains four zinc finger motifs at the C-terminus and a proline / glutamine-rich DNA-binding domain at the N-terminus.

It has an essential role in the normal development of the urogenital system, and it is mutated in a subset of patients with Wilms' tumor, the gene's namesake.

There is also evidence for the use of non-AUG (CUG) translation initiation site upstream of, and in-frame with the first AUG, leading to additional isoforms.

Inactivation of WT1 causes Wilms tumour, and Denys-Drash syndrome (DDS), leading to nephropathy and genital abnormalities.

[19][20] Using immunohistochemistry, WT1 protein can be demonstrated in the cell nuclei of 75% of mesotheliomas and in 93% of ovarian serous carcinomas, as well as in benign mesothelium and fallopian tube epithelium.

This fact is widely used for disease monitoring - evaluations of treatment success, as well as relapse or remission post-treatment checks.

The rising level of WT1 expression is significantly connected with disease progression and relapse of the proliferative disorder.

[35] The changes in amino acid occur in a region identified as a domain involved in transcription activation function.

The mice were observed to have defects of urogenital tract similar to cases patients when WT1 signalling has been malfunctioning.

[39] Mouse model is used to study some specific disorder connected with WT1 expression, too, such as acute myeloid leukemia.

[40] To examine the expression levels and localisation of WT1, a mouse model using WT1-GFP (green fluorescent protein) knock-in has been made.