DSG1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** 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.

**Synonyms:** - CDHF4 - Cadherin Family Member 4 Gene - DG1 - DSG - Desmoglein 1 wt Allele - EPKHE - EPKHIA - PPKS1 - SPPK1