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ZEB1

ZEB1

The information on this page was automatically extracted from online scientific databases.

What is the official name of the ZEB1 gene?

The official name of this gene is “zinc finger E-box binding homeobox 1.”

ZEB1 is the gene's official symbol. The ZEB1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the ZEB1 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

This gene encodes a zinc finger transcription factor. The encoded protein likely plays a role in transcriptional repression of interleukin 2. Mutations in this gene have been associated with posterior polymorphous corneal dystrophy-3 and late-onset Fuchs endothelial corneal dystrophy. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2010]

From UniProtThis link leads to a site outside Genetics Home Reference.:

Acts as a transcriptional repressor. Inhibits interleukin-2 (IL-2) gene expression. Enhances or represses the promoter activity of the ATP1A1 gene depending on the quantity of cDNA and on the cell type. Represses E-cadherin promoter and induces an epithelial-mesenchymal transition (EMT) by recruiting SMARCA4/BRG1. Represses BCL6 transcription in the presence of the corepressor CTBP1. Positively regulates neuronal differentiation. Represses RCOR1 transcription activation during neurogenesis. Represses transcription by binding to the E box (5'-CANNTG-3'). Promotes tumorigenicity by repressing stemness-inhibiting microRNAs.

How are changes in the ZEB1 gene related to health conditions?

Genetics Home Reference provides information about Fuchs endothelial dystrophy, which is associated with changes in the ZEB1 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the ZEB1 gene's known or predicted involvement in human disease.

Corneal dystrophy, posterior polymorphous, 3 (PPCD3): A subtype of posterior corneal dystrophy, a disease characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. Affected patient typically are asymptomatic. The disease is caused by mutations affecting the gene represented in this entry.

Corneal dystrophy, Fuchs endothelial, 6 (FECD6): A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the ZEB1 gene.
  • Corneal dystrophy, fuchs endothelial, 6
  • Corneal dystrophy, posterior polymorphous, 3
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the ZEB1 gene and its association with health conditions.
OMIM
Number
Title

Where is the ZEB1 gene located?

Cytogenetic Location: 10p11.2

Molecular Location on chromosome 10: base pairs 31,319,171 to 31,529,813

The ZEB1 gene is located on the short (p) arm of chromosome 10 at position 11.2.

The ZEB1 gene is located on the short (p) arm of chromosome 10 at position 11.2.

More precisely, the ZEB1 gene is located from base pair 31,319,171 to base pair 31,529,813 on chromosome 10.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about ZEB1?

You and your healthcare professional may find the following resources about ZEB1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the ZEB1 gene or gene products?

  • AREB6
  • BZP
  • DELTAEF1
  • FECD6
  • NIL2A
  • PPCD3
  • TCF8
  • ZFHEP
  • ZFHX1A

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding ZEB1?

asymptomatic ; cDNA ; cell ; corepressor ; cornea ; Descemet membrane ; differentiation ; epithelial ; gene ; gene expression ; isoforms ; posterior ; promoter ; protein ; repressor ; transcript ; transcription ; transcription factor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: December 22, 2014