disease:Defects in ZEB1 are the cause of posterior polymorphous corneal dystrophy type 3 (PPCD3) [MIM:609141]. Posterior polymorphous corneal dystrophy (PPCD) is a rare disease involving metaplasia and overgrowth of corneal endothelial cells. In patients with PPCD, these cells manifest in an epithelial morphology and gene expression pattern, produce an aberrant basement membrane, and, sometimes, spread over the iris and nearby structures in a way that increases the risk for glaucoma.,function:Inhibits interleukin-2 (IL-2) gene expression. May be responsible for transcriptional repression of the IL-2 gene. Enhances or represses the promoter activity of the ATP1A1 gene depending on the quantity of cDNA and on the cell type.,similarity:Belongs to the delta-EF1/ZFH-1 C2H2-type zinc-finger family.,similarity:Contains 1 homeobox DNA-binding domain.,similarity:Contains 7 C2H2-type zinc fingers.,tissue specificity:Expressed in heart and skeletal muscle, but not in liver, spleen, or pancreas.,
Nucleus .
Colocalizes with SMARCA4/BRG1 in E-cadherin-negative cells from established lines, and stroma of normal colon as well as in de-differentiated epithelial cells at the invasion front of colorectal carcinomas (at protein level). Expressed in heart and skeletal muscle, but not in liver, spleen, or pancreas.