Gene: DCHS1

Alternate names for this Gene: CDH19|CDH25|CDHR6|FIB1|MVP2|PCDH16|VMLDS1

Gene Summary: 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.4

Description of this Gene: dachsous cadherin-related 1

Type of Gene: protein-coding

rs201457110 in DCHS1 gene and MITRAL VALVE PROLAPSE, MYXOMATOUS 2 PMID 26258302 2015 Mutations in DCHS1 cause mitral valve prolapse.

rs10160659 in DCHS1 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs483352919 in DCHS1 gene and VAN MALDERGEM SYNDROME 1 PMID 24056717 2013 Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.