Synthesized peptide derived from human Wilms' Tumor 1(WT1) AA range: 350-449

The antibody can specifically recognize human WT1 protein.

WT1

Wilms tumor protein (WT33)

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 small subset of patients with Wilms tumor. This gene exhibits complex tissue-specific and polymorphic imprinting pattern , with biallelic , and monoallelic expression from the maternal and paternal alleles in different tissues. Multiple transcript variants have been described. In several variants , there is evidence for the use of a non-AUG (CUG) translation initiation codon upstream of , and in-frame with the first AUG. Authors of PMID:7926762 also provide evidence that WT1 mRNA undergoes RNA editing in human and rat , and that this process is tissue-restricted and developmentally regulated. [provided by RefSeq , Mar 2015] ,

Disease:A chromosomal aberration involving WT1 may be a cause of desmoplastic small round cell tumor (DSRCT) . Translocation t (11;22) (p13;q12) with EWSR1. ,Disease:Defects in WT1 are a cause of hypospadias. Hypospadias is a common malformation in which the urethra opens on the ventral side of the penis. It is considered a complex disorder with both genetic and environmental factors involved in the pathogenesis. Hypospadias can occur alone on an apparently multifactorial basis or as part of syndromes. ,Disease:Defects in WT1 are a cause of Meacham syndrome [MIM:608978]. Meacham syndrome is a rare sporadically occurring multiple malformation syndrome characterized by male pseudohermaphroditism with abnormal internal female genitalia comprising a uterus and double or septate vagina , complex congenital heart defect and diaphragmatic abnormalities. ,Disease:Defects in WT1 are a cause of Wilms tumor--aniridia--genitourinary anomalies--mental retardation syndrome (WAGR syndrome) [MIM:194072]. ,Disease:Defects in WT1 are the cause of Denys-Drash syndrome (DDS) [MIM:194080]. DDS is a typical nephropathy characterized by diffuse mesangial sclerosis , genital abnormalities , and/or Wilms tumor. There is phenotypic overlap with WAGR syndrome and Frasier syndrome. Inheritance is autosomal dominant , but most cases are sporadic. ,Disease:Defects in WT1 are the cause of Frasier syndrome (FS) [MIM:136680]. FS is characterized by a slowly progressing nephropathy leading to renal failure in adolescence or early adulthood , male pseudohermaphroditism , and no Wilms tumor. As for histological findings of the kidneys , focal glomerular sclerosis is often observed. There is phenotypic overlap with Denys-Drash syndrome. Inheritance is autosomal dominant. ,Disease:Defects in WT1 are the cause of isolated diffuse mesangial sclerosis (IDMS) [MIM:256370]. IDMS is an early-onset nephrotic syndrome occurring in the absence of other abnormalities and resulting in renal failure. Inheritance is autosomal recessive. ,Disease:Defects in WT1 are the cause of Wilms tumor 1 (WT1) [MIM:194070]. WT is an embryonal malignancy of the kidney that affects approximately 1 in 10'000 infants and young children. It occurs both in sporadic and hereditary forms. ,Function:Potential role in transcriptional regulation. Recognizes and binds to the DNA sequence 5'-CGCCCCCGC-3'. ,similarity:Belongs to the EGR C2H2-type zinc-finger protein family. ,similarity:Contains 4 C2H2-type zinc fingers. ,subunit:Interacts with WTIP (By similarity) . Interacts with ZNF224 via the zinc-finger region. Interacts with WTAP and SRY. ,tissue specificity:Expressed in the kidney and a subset of hematopoietic cells. ,

Nuclear

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