The DSP gene provides instructions for making a protein called desmoplakin. This protein is found primarily in cells of the heart and skin, where it is a major component of specialized structures called desmosomes.

2020年6月11日 · Desmoplakin (DSP) mutations cause a unique form of cardiomyopathy with a high prevalence of LV inflammation, fibrosis, and systolic dysfunction, and DSP cardiomyopathy should be considered in the differential diagnosis for myocarditis and sarcoidosis.

2020年5月6日 · Desmoplakin (DSP) is a structural protein that links the cardiac desmosome to intermediate filaments and is critical for normal force transmission in the myocardium. 1 Mutations in the DSP gene encoding desmoplakin were first identified in an autosomal recessive form of arrhythmogenic cardiomyopathy. 2 Case series established DSP mutations as ...

Desmoplakin is a protein in humans that is encoded by the DSP gene. [5] [6] [7] Desmoplakin is a critical component of desmosome structures in cardiac muscle and epidermal cells, which function to maintain the structural integrity at adjacent cell contacts.

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) is a rare, genetic disorder that causes ventricular arrhythmias which can increase the chance of death in young individuals. ARVD/C causes the heart muscle of the right ventricle to be replaced by fat and fibrous scare tissue which can weaken the heart.

2024年12月24日 · DSP (Desmoplakin) is a Protein Coding gene. Diseases associated with DSP include Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma and Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis. Among its related pathways are Signaling by Rho GTPases and Innate Immune System.

Desmoplakin (DSP) is a desmosomal protein that is encoded by the DSP gene, located on chromosome 6p24. DSP is expressed in both the skin and myocardium and plays an essential role in cell-to-cell adhesion within the cardiomyocytes by anchoring intermediate filaments to the desmosome [1, 2].

Desmoplakin (DSP), encoded by the DSP gene, is the main desmosome component and is abundant in the myocardial tissue. There are three DSP isoforms that assume the role of supporting structural stability through intercellular adhesion.

Variants in the desmoplakin (DSP) gene have been recognized in association with the pathogenesis of arrhythmogenic right ventricular cardiomyopathy (ARVC) for nearly 20 years. More recently, genetic variation in DSP has also been associated with left-dominant arrhythmogenic cardiomyopathy.

2018年9月17日 · A recessive mutation in the DSP gene linked to cardiomyopathy, skin fragility and hair defects impairs the binding of desmoplakin to epidermal keratins and the muscle-specific intermediate filament desmin [published online June 7, 2018 ].