Desmoplakin (DSP) Antibody – Goat Polyclonal

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. [provided by RefSeq, Jan 2016]

Desmoplakin: 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. Homodimer. Interacts with COL17A1 (via cytoplasmic region). Associates (via C-terminal) with KRT5-KRT14 (via rod region), KRT8-KRT18 and VIM intermediate filaments. Interacts with DSC2. Isoform DPI is apparently an obligate constituent of all desmosomes. Isoform DPII resides predominantly in tissues and cells of stratified origin. Belongs to the plakin or cytolinker family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell adhesion; Cytoskeletal; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 6p24

Cellular Component: cornified envelope; extracellular matrix; intermediate filament; nucleus; plasma membrane

Molecular Function: protein binding; protein binding, bridging; protein kinase C binding; structural constituent of cytoskeleton; structural molecule activity

Biological Process: epidermis development; intermediate filament organization; keratinocyte differentiation; peptide cross-linking

Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8; Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma; Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis; Epidermolysis Bullosa, Lethal Acantholytic; Keratosis Palmoplantaris Striata Ii; Skin Fragility-woolly Hair Syndrome