Entrez 8642 | Ensembl ENSG00000166341 | |
External IDs MGI: 2685011 HomoloGene: 2771 GeneCards: DCHS1 | ||
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.
Contents
Function
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.
Clinical significance
Mutations in this gene have been shown to cause mitral valve prolapse
References
DCHS1 Wikipedia(Text) CC BY-SA