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  • Human DSG1 wild-type allele is located in the vicinity of 18q12.1 and is approximately 41 kb in length. This allele, which encodes desmoglein-1 protein, plays a role in desmosome formation in skin and other epithelium of the mouth and esophagus. Mutation of the gene is associated with autosomal dominant keratosis palmoplantaris striata I and congenital erythroderma with palmoplantar keratoderma, hypotrichosis and hyper IgE.
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