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Structure, Function, and Regulation of the Junctophilin Family

Duane D. Hall, Hiroshi Takeshima, Long‐Sheng Song

2023Annual Review of Physiology24 citationsDOIOpen Access PDF

Abstract

In both excitable and nonexcitable cells, diverse physiological processes are linked to different calcium microdomains within nanoscale junctions that form between the plasma membrane and endo-sarcoplasmic reticula. It is now appreciated that the junctophilin protein family is responsible for establishing, maintaining, and modulating the structure and function of these junctions. We review foundational findings from more than two decades of research that have uncovered how junctophilin-organized ultrastructural domains regulate evolutionarily conserved biological processes. We discuss what is known about the junctophilin family of proteins. Our goal is to summarize the current knowledge of junctophilin domain structure, function, and regulation and to highlight emerging avenues of research that help our understanding of the transcriptional, translational, and post-translational regulation of this gene family and its roles in health and during disease.

Topics & Concepts

BiologyFunction (biology)Protein familyThree-domain systemComputational biologyEvolutionary biologyGeneGeneticsGenomeIon channel regulation and functionIon Channels and ReceptorsSignaling Pathways in Disease
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