Gene: DSG1

Alternate names for this Gene: CDHF4|DG1|DSG|EPKHE|EPKHIA|PPKS1|SPPK1

Gene Summary: This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmoglein family members on chromosome 18. The encoded protein has been identified as a target of auto-antibodies in the autoimmune skin blistering disease pemphigus foliaceus. Disruption of this gene has also been associated with the skin diseases palmoplantar keratoderma and erythroderma.

Gene is located in Chromosome: 18

Location in Chromosome : 18q12.1

Description of this Gene: desmoglein 1

Type of Gene: protein-coding

rs2199301 in DSG1 gene and Processing speed PMID 24629169 2014 While a meta-analysis on the GWAS findings did not reveal age-independent TMT associations withstanding correction for multiple testing, we found a genome-wide significant age-moderated effect between variants in the DSG1 gene region and TMT-A performance predominantly reflecting visual processing speed (rs2199301, P(meta-analysis) = 1.3 × 10(-7)).