Entrez gene ID | | 1832 |
Official gene symbol | | DSP |
Full name | | desmoplakin |
Aliases | | ,DPI,DPII, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 6 Locus: 6p24 |
Gene position | | 7541870 - 7586946 Map Viewer |
Gene orientation | | plus |
Gene size | | 45077 bp |
Gene sequence |
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OMIM ID | | 125647 |
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