Recombinant Human Desmoplakin (DSP), Truncated

Uniprot Id

P15924

Target Species

Human

Target Name

DSP

Target Full Name

Desmoplakin

Target Function

Major high molecular weight protein of desmosomes. Involved in the organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma membrane domains and in the anchoring of intermediate filaments to the desmosomes.

Target Involvement

Keratoderma, palmoplantar, striate 2 (SPPK2); Cardiomyopathy, dilated, with woolly hair and keratoderma (DCWHK); Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8); Skin fragility-woolly hair syndrome (SFWHS); Epidermolysis bullosa, lethal acantholytic (EBLA); Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis (DCWHKTA)

Target Subcellular Location

Cell junction, desmosome. Cytoplasm, cytoskeleton. Cell membrane.

Target Protein Families

Plakin or cytolinker family

Target Tissue Specificity

Isoform DPI is apparently an obligate constituent of all desmosomes. Isoform DPII resides predominantly in tissues and cells of stratified origin.

Target Research Area

Signal Transduction

Target Synonyms

250/210 kDa paraneoplastic pemphigus antigen; DCWHKTA; Desmoplakin (DPI DPII); Desmoplakin; Desmoplakin I ; Desmoplakin II; DESP_HUMAN; DP; DP I; DP II; DPI; DPII; DSP; KPPS2; PPKS 2; PPKS2

Target Background

This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woolly hair syndrome. Alternative splicing results in multiple transcript variants.