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Target intelligence / Profile preview
Desmoplakin (DSP)
- Target
- DSP
- Molecular classification
- Other (desmosomal plaque protein, cytoskeletal linker protein, member of the plakin family)
01
Overview
Desmoplakin is a critical desmosomal plaque protein encoded by the DSP gene, essential for tethering intermediate filaments to desmosomal adhesion complexes in epithelial and cardiac muscle cells. It maintains structural integrity at cell–cell junctions and plays a crucial role in both skin and heart by stabilizing intercellular adhesion and participating in regulating electrical conduction and gene expression in myocardium. Mutations in desmoplakin cause a spectrum of inherited skin and cardiac disorders, underscoring its indispensability for organ integrity and function; it is not considered a classical therapeutic target but is recognized for its biomarker and diagnostic roles in inherited cardiomyopathies and skin diseases[1][3][5].
- Other names
- DesmoplakinDPKPPS2PPKS2DPIDPII250/210 kDa paraneoplastic pemphigus antigenDCWHKTA
02
Mechanism of action
Not applicable (no direct drug targeting; functional impact by mutations or altered adhesion signaling)
03
Biological functions
Maintenance of cell–cell adhesionAnchorage of intermediate filaments to desmosomesStructural integrity of cardiac muscle and epidermisRegulation of gene expression (adipogenic/fibrogenic genes)Regulation of electrical conductivity in myocardium
04
Disease associations
Cardiovascular disease (arrhythmogenic right ventricular cardiomyopathy, dilated cardiomyopathy, Carvajal syndrome, Naxos disease)Skin diseases (striate palmoplantar keratoderma, erythrokeratodermia-cardiomyopathy syndrome)Paraneoplastic pemphigusSudden cardiac death
05
Safety considerations
Severe tissue fragility if DSP is disrupted (epidermal separation, cardiac failure)Embryonic lethality in knockout models (relevant to gene editing approaches or gene therapies)Risk of arrhythmia or sudden cardiac death in patients with DSP mutations
06
Interacting drugs
None reported (no currently approved drugs specifically target desmoplakin; impacts are primarily genetic or via desmosome integrity)
07
Biomarkers
Mutations in DSP may serve as biomarkers for arrhythmogenic cardiomyopathy and related cardiac/skin syndromes
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