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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.
Gene Name: | desmoplakin |
Synonyms: | DSP, Apeg-1, Desmoplakin II, DP, Desmoplakin I, DPI, Desmoplakin (DPI, DPII), KPPS2, PPKS2, Desmoplakin, DPII |
Target Sequences: | NM_004415 NP_004406.2 P15924 |
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