DSG1

Chr 18

desmoglein 1

Also known as: CDHF4, DG1, DSG, EPKHE, EPKHIA, PPKS1, SPPK1

NCBI Gene: 1828 ENSG00000134760 UniProt: Q02413

The protein is a cadherin-like transmembrane glycoprotein that forms desmosomes, which are cell-cell junctions that resist mechanical stress and mediate cellular adhesion. Mutations cause congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-IgE (autosomal recessive) or palmoplantar keratoderma striata (autosomal dominant). This gene is highly constrained against loss-of-function mutations, indicating that such variants are likely to be pathogenic.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPalmoplantar keratoderma 1, striate, focal, or diffuse

UniProtErythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.33

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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