Desmoglein
From Ganfyd
Common Name:Desmoglein
Biochemical Information
Molecular Structure
Important Issues in Man
Relevant Clinical Literature
UK Guidance
Other Wikis
Medpedia on Desmoglein (Less technical, good quality control)
Wikipedia on Desmoglein (Less technical, ? quality control)
A desmosome cadherin-type adhesion protein family with 4 cadherin domains:
- Desmoglein-1 (desmosomal glycoprotein 1, pemphigus foliaceus antigen, DG1,DGI) is coded by DSG1 gene at 18q12.1
- Mutations in DSG1 cause palmoplantar keratoderma striate type 1 (SPPK1, keratosis palmoplantaris striata I)
- Two isoforms
- Target molecule recognized by:
- Toxins in staphylococcal scalded skin syndrome
- Desmoglein-2 (HDGC) is coded by DSG2 gene at 18q12.1-q12.2
- Mutations of DSG2 cause familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10, arrhythmogenic right ventricular cardiomyopathy 10, ARVC10)
- Polymorhism of DSG2 risk factor for dilative cardiomyopathy
- UV-induced down-regulation is mediated via reactive oxygen species which are generated through EGF receptor activation and Rac2/NADPH oxidase activation
- Desmoglein-3 (130 kDa pemphigus vulgaris antigen, PVA) is coded by DSG3 gene at 18q12.1-q12.2
- Autoantibodies in patients with pemphigus vulgaris
- Toxins in staphylococcal scalded skin syndrome
- Desmoglein-4 (CDHF13) is coded by DSG4 gene at 18q12.1
- Mutations of DSG4 cause localized autosomal hypotrichosis (LAH) - hypotrichosis restricted to the scalp, chest, arms and legs and abnormal hair follicles and shafts, which are thin and atrophic.
- Target molecule recognized by:
- Autoantibodies in patients with pemphigus vulgaris
- Toxins in staphylococcal scalded skin syndrome
