DSC3, Official Symbol DSC3provided by HGNC Official Full Name desmocollin 3provided by HGNC Primary source HGNC:HGNC:3037 See related Ensembl:ENSG00000134762 MIM:600271; AllianceGenome:HGNC:3037 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 DSC; DSC1; DSC2; DSC4; CDHF3; HT-CP Summary The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Mutations in this gene are a cause of hypotrichosis and recurrent skin vesicles disorder. The protein can act as an autoantigen in pemphigus diseases, and it is also considered to be a biomarker for some cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014] Expression Biased expression in skin (RPKM 186.5) and esophagus (RPKM 47.4) See more Orthologs mouse all