DSG2 gene

Last updated on: 16.01.2024

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Definition
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The DSG2 gene (DSG2 stands for: Desmoglein 2) is a protein-coding gene located on chromosome 18q12.1.

General information
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The DSG2 gene encodes a member of the desmoglein family and the cadherin superfamily of cell adhesion molecules (desmoglein2). Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelia, cardiac muscle cells and other cell types. The encoded preprotein is proteolytically processed to form the mature glycoprotein.

The DSG2 gene is located in a gene cluster with other members of the desmoglein gene family on chromosome 18.

Diseases associated with DSG2 include arrhythmogenic right ventricular dysplasia, familial, 10 and dilated cardiomyopathy1Bb. An important paralog of this gene is DSG4.

Last updated on: 16.01.2024