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DSP desmoplakin

Gene ID: 1832, updated on 29-Mar-2023
Gene type: protein coding
Also known as: DP; DCWHKTA


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]

Copy number response

Copy number response

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-10-12)

ClinGen Genome Curation PagePubMed

No evidence available (Last evaluated 2021-10-12)

ClinGen Genome Curation Page

Genomic context

Chromosome: 6; NC_000006.12 (7541671..7586714)
Total number of exons:


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