DSG1 Gene

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.

• Keratosis palmoplantaris striata with mutations in desmoglein 1(AD) OMIM: 148700.
• Erythroderma congenital with keratosis plamoplantaris and hyper IgE with mutations in desmoglein1 (AR) OMIM: 615508.

An important paralog of this gene is DSG4.

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.

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.