Disease-gene associations mined from literature

Literature associating WT1 and 46,XX sex reversal

WT1 [ENSP00000331327]

Wilms tumor protein; Transcription factor that plays an important role in cellular development and cell survival. Recognizes and binds to the DNA sequence 5'-GCG(T/G)GGGCG-3'. Regulates the expression of numerous target genes, including EPO. Plays an essential role for development of the urogenital system. It has a tumor suppressor as well as an oncogenic role in tumor formation. Function may be isoform-specific: isoforms lacking the KTS motif may act as transcription factors. Isoforms containing the KTS motif may bind mRNA and play a role in mRNA metabolism or splicing. Isoform 1 has lower affinity for DNA, and can bind RNA; Belongs to the EGR C2H2-type zinc-finger protein family.

Synonyms:  WT1,  WT1p,  hWT1,  A0FJ57,  A0FJ58 ...

Linkouts:  STRING  Pharos  UniProt  OMIM