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Article

Mutation update: The spectra of PLEC sequence variants and related plectinopathies.

Human mutation - 1 Dec 2022

Vahidnezhad Hassan, Youssefian Leila, Harvey Nailah, Tavasoli Ali Reza, Saeidian Amir Hossein, Sotoudeh Soheila, Varghaei Aida, Mahmoudi Hamidreza, Mansouri Parvin, Mozafari Nikoo, Zargari Omid, Zeinali Sirous, Uitto Jouni

Abstract excerpt

Plectin, encoded by PLEC, is a cytoskeletal linker of intermediate filaments expressed in many cell types. Plectin consists of three main domains that determine its functionality: the N-terminal domain, the Rod domain, and the C-terminal domain. Molecular defects of PLEC correlating with the functional aspects lead to a group of rare heritable disorders, plectinopathies. These multisystem disorders include an...

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PMID: 35815343
DOI: 10.1002/humu.24434
PMCID: PMC9771971

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