DSP
MIM.125647 6p24
Image Gallery
desmoplakins, DSP, DP1 and DP2.
Desmosomal proteins can be divided into 2 groups based on whether they fractionate with the urea-insoluble ’core’ or the urea-soluble ’plaque’ components. The main proteins of the plaque comprise the desmoplakins and plakoglobin (MIM.173325).
desmoplakin-1 and desmoplakin-2 are related proteins of molecular mass 250,000 and 215,000, respectively. They are splice variants of the same gene.
Pathology
germline mutations in
- striate subtype of palmoplantar keratoderma (type I striate keratosis palmoplantaris) (PPKS type 1) (MIM.148700)
- dilated left ventricular cardiomyopathy with palmoplantar epidermis and woolly hair (MIM.605676)
- arrhythmogenic right ventricular dysplasia (ARVD8)(MIM.607450)
- skin fragility-woolly hair syndrome (MIM.607655)
References
Leung CL, Green KJ, Liem RK. Plakins : a family of versatile cytolinker proteins. Trends Cell Biol. 2002 Jan ;12(1):37-45. PMID : 11854008
Lai Cheong JE, Wessagowit V, McGrath JA. Molecular abnormalities of the desmosomal protein desmoplakin in human disease. Clin Exp Dermatol. 2005 May;30(3):261-6. PMID: 15807686