Desmoglein
Desmoglein is a protein in humans that is encoded by the DSG gene. Desmoglein is a component of desmosome structures in cells, which are involved in cell adhesion, signalling, and cell structure. There are four types of desmoglein: DSG1, DSG2, DSG3, and DSG4.
Function
Desmogleins are part of the cadherin protein family and are located on the cell surface. They play a crucial role in the formation of desmosomes, which are cell structures that help cells adhere to each other. Desmogleins also play a role in cell signalling and maintaining cell structure.
Clinical significance
Mutations in the DSG genes can lead to several skin and hair disorders. For example, mutations in DSG1 and DSG3 can cause pemphigus, a group of rare autoimmune blistering diseases. Mutations in DSG4 can cause hypotrichosis, a condition characterized by a decrease in the amount of hair on the scalp.
See also
References
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