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CDH1 cadherin 1

Gene ID: 999, updated on 28-Nov-2021
Gene type: protein coding
Also known as: UVO; CDHE; ECAD; LCAM; Arc-1; BCDS1; CD324

Summary

This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion protein is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function of this gene is thought to contribute to cancer progression by increasing proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain is required for internalization. This gene is present in a gene cluster with other members of the cadherin family on chromosome 16. [provided by RefSeq, Nov 2015]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Blepharocheilodontic syndrome 1
MedGen: C4551988OMIM: 119580GeneReviews: Not available
See labs
Endometrial carcinoma
MedGen: C0476089OMIM: 608089GeneReviews: Not available
See labs
Familial cancer of breastSee labs
Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.
GeneReviews: Not available
Hereditary diffuse gastric cancerSee labs
Malignant tumor of prostate
MedGen: C0376358OMIM: 176807GeneReviews: Not available
See labs
Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.
GeneReviews: Not available
Neoplasm of ovary
MedGen: C0919267OMIM: 167000GeneReviews: Not available
See labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-04-10)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-04-10)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
16q22.1
Sequence:
Chromosome: 16; NC_000016.10 (68737292..68835537)
Total number of exons:
16

Links

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