DCHS1

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DCHS1
Identifiers
AliasesDCHS1, CDH19, CDH25, CDHR6, FIB1, PCDH16, VMLDS1, MVP2, dachsous cadherin-related 1
External IDsOMIM: 603057 MGI: 2685011 HomoloGene: 2771 GeneCards: DCHS1
Gene location (Human)
Chromosome 11 (human)
Chr.Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for DCHS1
Genomic location for DCHS1
Band11p15.4Start6,621,330 bp[1]
End6,655,809 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_024542
NM_003737

NM_001162943

RefSeq (protein)

NP_003728

NP_001156415

Location (UCSC)Chr 11: 6.62 – 6.66 MbChr 7: 105.75 – 105.79 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protein dachsous homolog 1, also known as protocadherin-16 (PCDH16) or cadherin-19 (CDH19) or cadherin-25 (CDH25) or fibroblast cadherin-1 (FIB1), is a protein that in humans is encoded by the DCHS1 gene.[5][6]

Function[edit]

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.[5]

Clinical significance[edit]

Mutations in this gene have been shown to cause mitral valve prolapse[7]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000166341 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036862 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: dachsous 1 (Drosophila)".
  6. ^ Matsuyoshi N, Imamura S (June 1997). "Multiple cadherins are expressed in human fibroblasts". Biochem. Biophys. Res. Commun. 235 (2): 355–8. doi:10.1006/bbrc.1997.6707. PMID 9199196.
  7. ^ "Mutations in the DCHS1 Gene Cause Mitral Valve Prolapse In Humans". Ashg.org. Retrieved 2013-11-22.

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.