DCHS1
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). 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 | edit source]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 | edit source]Mutations in this gene have been shown to cause mitral valve prolapse[3]
References
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Further reading
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.