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Gene : DSG1 Homo sapiens

Name  ? desmoglein 1 Cytological Location  18q12.1
Brief Description  desmoglein 1
Description  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]
  • synonyms:
  • CDHF4,
  • EPKHIA,
  • SPPK1,
  • OTTHUMG00000131983,
  • NM_001942,
  • DSG,
  • uc002kwp.4,
  • DG1,
  • CDHF4,
  • DSG1,
  • X56654,
  • EPKHE,
  • DSG,
  • HGNC:3048,
  • PPKS1
  • identifiers:
  • 1828,
  • ENSG00000134760,
  • DSG1

Genome feature

Region: gene ? Length: 41087  
Location: 18:31318160-31359246 Cyto location: 18q12.1


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Gene -> HPO annotation (Human Phenotype Ontology)

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Proteins

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SNPs

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Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

150 SN Ps

5 Cross References

20 Data Sets

7 Homologues

1 Located Features

97 Rna Seq Results