Desmoplakin
Desmoplakin is a protein that in humans is encoded by the DSP gene. Desmoplakin is a critical component of desmosome structures in cardiac muscle and epithelial cells, which function to maintain the structural integrity at cell-cell junctions.
Function[edit | edit source]
Desmoplakin is a component of the cytoskeleton and plays a pivotal role in the organization of the intermediate filaments. It is involved in linking the intermediate filaments to the cell membrane at the sites of desmosomes. The N-terminal of desmoplakin is required for localization to the desmosome and interacts with the plakophilin and plakoglobin, which in turn bind to cadherins forming the cell-cell adhesion junction.
Clinical significance[edit | edit source]
Mutations in the DSP gene are associated with several cardiomyopathies, including arrhythmogenic right ventricular cardiomyopathy (ARVC) and dilated cardiomyopathy (DCM). These conditions often lead to heart failure and sudden cardiac death. In addition, mutations in this gene have been associated with skin conditions such as striate palmoplantar keratoderma and Carvajal syndrome.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
Desmoplakin Resources | ||
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