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Gene : DSC1 Homo sapiens

Name  ? desmocollin 1 Cytological Location  18q12.1
Brief Description  desmocollin 1
Description  The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. A subtype of IgA pemphigus, a life-threatening autoimmune disease, is characterized by the presence of autoantibodies that target the encoded protein. The desmosomal family members are arranged in two clusters on chromosome 18. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protein. [provided by RefSeq, Nov 2015]
  • synonyms:
  • NM_004948,
  • AF293358,
  • DG2/DG3,
  • HGNC:3035,
  • NM_024421,
  • uc002kwn.4,
  • CDHF1,
  • OTTHUMG00000131982,
  • CDHF1,
  • DSC1
  • identifiers:
  • 1823,
  • ENSG00000134765,
  • DSC1

Genome feature

Region: gene ? Length: 33621  
Location: 18:31129236-31162856 reverse strand Cyto location: 18q12.1


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Disease

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242 SN Ps

5 Cross References

16 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results