DCHS1

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Dachsous 1 (Drosophila)
Identifiers
Symbols DCHS1 ; CDH25; CDHR6; FIB1; PCDH16
External IDs OMIM603057 MGI2685011 HomoloGene2771 GeneCards: DCHS1 Gene
Orthologs
Species Human Mouse
Entrez 8642 233651
Ensembl ENSG00000166341 ENSMUSG00000036862
UniProt Q96JQ0 E9PVD3
RefSeq (mRNA) NM_003737 NM_001162943
RefSeq (protein) NP_003728 NP_001156415
Location (UCSC) Chr 11:
6.64 – 6.68 Mb
Chr 7:
105.75 – 105.79 Mb
PubMed search [1] [2]

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.[1][2]

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.[1]

Clinical significance[edit]

Mutations in this gene have been shown to cause mitral valve prolapse[3]

References[edit]

  1. ^ a b "Entrez Gene: dachsous 1 (Drosophila)". 
  2. ^ 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. 
  3. ^ "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.