DSP desmoplakin
Gene ID: 1832, updated on 7-Apr-2024Gene type: protein coding
Also known as: DP; DCWHKTA
- See all available tests in GTR for this gene
- Go to complete Gene record for DSP
- Go to Variation Viewer for DSP variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | See labs |
| Arrhythmogenic right ventricular cardiomyopathy MedGen: C0349788GeneReviews: Arrhythmogenic Right Ventricular Cardiomyopathy Overview | See labs |
| Arrhythmogenic right ventricular dysplasia 8 | See labs |
| Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | See labs |
| Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. GeneReviews: Not available | |
| Keratosis palmoplantaris striata 2 | See labs |
| Lethal acantholytic epidermolysis bullosa | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-10-12) ClinGen Genome Curation PagePubMedTriplosensitivity No evidence available (Last evaluated 2021-10-12) ClinGen Genome Curation Page |
Genomic context
- Location:
- 6p24.3
- Sequence:
- Chromosome: 6; NC_000006.12 (7541671..7586714)
- Total number of exons:
- 24
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DSP variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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