Plectin-related skin diseases.

Abstract

Plectin has been characterized as a linker protein that is expressed in many cell types and is distinctive in various isoforms in the N-terminus and around the rod domain due to complicated alternative splicing of PLEC, the gene encoding plectin. Plectin deficiency causes autosomal recessive epidermolysis bullosa simplex (EBS) with involvement of the skin and other organs, such as muscle and gastrointestinal tract, depending on the expression pattern of the defective protein. In addition, a point mutation in the rod domain of plectin leads to autosomal dominant EBS, called as EBS-Ogna. Plectin can be targeted by circulating autoantibodies in subepidermal autoimmune blistering diseases. This review summarizes plectin-related skin diseases, from congenital to autoimmune disorders.

• Authors: Ken Natsuga
• Journal: Journal of dermatological science (J Dermatol Sci) Vol. 77 Issue 3 Pg. 139-45 (Mar 2015) ISSN: 1873-569X [Electronic] Netherlands
• PMID: 25530118 (Publication Type: Journal Article, Review)
• Copyright: Copyright © 2014 Japanese Society for Investigative Dermatology. Published by Elsevier Ireland Ltd. All rights reserved.

Chemical References

• Autoantibodies
• Plectin

Topics

• Autoantibodies (blood)
• Autoimmune Diseases (genetics, immunology)
• Epidermolysis Bullosa Simplex (complications, genetics)
• Gastric Outlet Obstruction (complications, genetics)
• Humans
• Muscular Dystrophies (complications, genetics)
• Plectin (deficiency, genetics, immunology)
• Point Mutation
• Pylorus (abnormalities)
• Skin Diseases, Vesiculobullous (genetics, immunology)