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DCHS1 dachsous cadherin-related 1

Gene ID: 8642, updated on 2-May-2024
Gene type: protein coding
Also known as: FIB1; MVP2; CDH19; CDH25; CDHR6; MMVP2; PCDH16; VMLDS1

Summary

This gene is a member of the cadherin superfamily whose members encode calcium-dependent cell-cell adhesion molecules. The encoded protein has a signal peptide, 27 cadherin repeat domains and a unique cytoplasmic region. This particular cadherin family member is expressed in fibroblasts but not in melanocytes or keratinocytes. The cell-cell adhesion of fibroblasts is thought to be necessary for wound healing. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Mitral valve prolapse, myxomatous 2
MedGen: C1843003OMIM: 607829GeneReviews: Not available
See labs
Van Maldergem syndrome 1
MedGen: C4551950OMIM: 601390GeneReviews: Not available
See labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2018-08-31)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2018-08-31)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
11p15.4
Sequence:
Chromosome: 11; NC_000011.10 (6621330..6655809, complement)
Total number of exons:
21

Links

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