Gene Symbol | DSP |
Entrez Gene ID | 1832 |
Full Name | desmoplakin |
Synonyms | DCWHKTA,DP |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Keratosis palmoplantaris striata II, 612908 (3); Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3); Arrhythmogenic right ventricular dysplasia 8, 607450 (3); Skin fragility-woolly hair syndrome, 607655 (3); Epidermolysis bullosa, lethal acantholytic, 609638 (3); Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3) |