DSG1 desmoglein 1
Gene ID: 1828, updated on 27-Nov-2024Gene type: protein coding
Also known as: DG1; DSG; CDHF4; EPKHE; PPKS1; SPPK1; EPKHIA
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- Go to complete Gene record for DSG1
- Go to Variation Viewer for DSG1 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common variants at 5q22 associate with pediatric eosinophilic esophagitis. GeneReviews: Not available | |
| Palmoplantar keratoderma i, striate, focal, or diffuse | See labs |
| Severe dermatitis-multiple allergies-metabolic wasting syndrome | See labs |
Genomic context
- Location:
- 18q12.1
- Sequence:
- Chromosome: 18; NC_000018.10 (31318160..31359246)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DSG1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- DSG1 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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