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DSC2 / Desmocollin 2 is a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, 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 desmocollin family members on chromosome 18. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11, and reduced protein expression has been described in several types of cancer. Alternative splicing results in multiple transcript variants.
Gene Name: | desmocollin 2 |
Family/Subfamily: | Cadherin , not assigned-Cadherin |
Synonyms: | DSC2, ARVD11, CDHF2, Cadherin family member 2, Desmosomal glycoprotein III, DG2, DGII/III, Desmocollin-2, Desmocollin-3, Desmosomal glycoprotein II, Desmosomal glycoprotein II/III, Desmocollin 2 |
Target Sequences: | NM_004949 NP_004940.1 Q02487 |
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