Desmoplakin (DSP)

DPI; DPII; KPPS2; PPKS2; DP; 250/210 kDa paraneoplastic pemphigus antigen

SPN	U641
HGNC	3052
MGI	109611
PubMed	12101406
RGD	1305794
UniProt	P15924
Wiki	Desmoplakin

Desmosomes are intercellular junctions that tightly link adjacent cells. Desmoplakin is an obligate component of functional desmosomes that anchors intermediate filaments to desmosomal plaques.

The N-terminus of desmoplakin is required for localization to the desmosome and interacts with the N-terminal region of plakophilin 1 and plakoglobin. The C-terminus of desmoplakin binds with intermediate filaments. In the mid-region of desmoplakin, a coiled-coiled rod domain is responsible for homodimerization. Mutations in this gene are the cause of several cardiomyopathies and keratodermas as well as the autoimmune disease paraneoplastic pemphigus.

Reference

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Erratum
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Erratum
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