DSG1 Gene

Last updated on: 04.07.2023

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DefinitionThis section has been translated automatically.

The DSG1 gene (DSG1 is the acronym for desmoglein 1) is a protein-coding gene located on chromosome 18q12.1. DSG1 encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, cadherin-like transmembrane glycoproteins, are the major components of the desmosome.

Diseases associated with DSG1 include.

An important paralog of this gene is DSG4.

General informationThis section has been translated automatically.

Desmosomes are cell-cell junctions that resist shear forces and are found in high concentrations in cells exposed to mechanical stress. The DSG1 gene is located in a cluster with other members of the desmoglein family on chromosome 18.

Antibodies against desmoglein-1 can be identified in pemphigus foliaceus.

LiteratureThis section has been translated automatically.

  1. Abi Zamer B et al. (2019) Novel mutation in the DSG1 gene causes autosomal-dominant striate palmoplantar keratoderma in a large Syrian family. Ann Hum Genet 83: 472-476.
  2. Samuelov L et al. (2013) Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting. Nature Genet. 45: 1244-1248

  3. Tayeh C et al. (2019) Mutation in the SR6 region of desmoplakin is associated with pustular psoriasiform rash and left ventricular dysfunction. Int J Dermatol 58:742-744
  4. Yong AA et al (2013) Paraneoplastic pemphigus. Australas J Dermatol 54: 241-250.

Last updated on: 04.07.2023