DCHS1

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DCHS1
Identifiers
Aliases DCHS1, CDH19, CDH25, CDHR6, FIB1, PCDH16, VMLDS1, MVP2, dachsous cadherin-related 1
External IDs MGI: 2685011 HomoloGene: 2771 GeneCards: DCHS1
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_024542
NM_003737

NM_001162943

RefSeq (protein)

NP_003728

NP_001156415.1
NP_001156415

Location (UCSC) Chr 11: 6.62 – 6.66 Mb Chr 7: 105.75 – 105.79 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/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.[3][4]

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.[3]

Clinical significance[edit]

Mutations in this gene have been shown to cause mitral valve prolapse[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ a b "Entrez Gene: dachsous 1 (Drosophila)". 
  4. ^ 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. 
  5. ^ "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.