DSG3

Chr 18

desmoglein 3

Also known as: ABOLM, CDHF6, PVA

NCBI Gene: 1830 ENSG00000134757 UniProt: P32926

Desmoglein 3 is a calcium-binding transmembrane glycoprotein that forms desmosome cell-cell junctions essential for epithelial cell adhesion, particularly in oral and laryngeal mucosa. Mutations cause autosomal recessive blistering and acantholytic lesions of the oral and laryngeal mucosa, presenting as a localized form of pemphigus affecting mucosal surfaces. The gene shows very low constraint against loss-of-function variants (LOEUF 1.09), consistent with the recessive inheritance pattern where both copies must be affected to cause disease.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with other desmoglein gene family members on chromosome 18. The encoded protein has been identified as the autoantigen of the autoimmune blistering disease pemphigus vulgaris. [provided by RefSeq, Jan 2016]

ResearchGenerating clinical summary…