DSG1, Official Symbol DSG1provided by HGNC Official Full Name desmoglein 1provided by HGNC Primary source HGNC:HGNC:3048 See related Ensembl:ENSG00000134760 MIM:125670; AllianceGenome:HGNC:3048 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DG1; DSG; CDHF4; EPKHE; PPKS1; SPPK1; EPKHIA 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. [provided by RefSeq, Feb 2015] Expression Restricted expression toward skin (RPKM 314.6) See more Orthologs all