ZEB1 zinc finger E-box binding homeobox 1
Gene ID: 6935, updated on 10-Dec-2024Gene type: protein coding
Also known as: BZP; TCF8; AREB6; FECD6; NIL2A; PPCD3; ZFHEP; ZFHX1A; DELTAEF1
- See all available tests in GTR for this gene
- Go to complete Gene record for ZEB1
- Go to Variation Viewer for ZEB1 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Corneal dystrophy, Fuchs endothelial, 6 | See labs |
| Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. GeneReviews: Not available | |
| Posterior polymorphous corneal dystrophy 3 | See labs |
Genomic context
- Location:
- 10p11.22
- Sequence:
- Chromosome: 10; NC_000010.11 (31318417..31529804)
- Total number of exons:
- 22
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ZEB1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
- ZEB1 database
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