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Aliases for DSP Gene

Aliases for DSP Gene

  • Desmoplakin 2 3 3 5
  • 250/210 KDa Paraneoplastic Pemphigus Antigen 3 4
  • DP 3 4
  • Desmoplakin (DPI, DPII) 2
  • DCWHKTA 3

External Ids for DSP Gene

Previous GeneCards Identifiers for DSP Gene

  • GC06P007526
  • GC06P007486
  • GC06P007419

Summaries for DSP Gene

Entrez Gene Summary for DSP Gene

  • 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]

GeneCards Summary for DSP Gene

DSP (Desmoplakin) is a Protein Coding gene. Diseases associated with DSP include Skin Fragility-Woolly Hair Syndrome and Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma. Among its related pathways are Adhesion and Innate Immune System. GO annotations related to this gene include poly(A) RNA binding and structural constituent of cytoskeleton. An important paralog of this gene is PLEC.

UniProtKB/Swiss-Prot for DSP Gene

  • Major high molecular weight protein of desmosomes. Involved in the organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma membrane domains and in the anchoring of intermediate filaments to the desmosomes.

Gene Wiki entry for DSP Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DSP Gene

Genomics for DSP Gene

Regulatory Elements for DSP Gene

Enhancers for DSP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G007479 1.4 FANTOM5 Ensembl ENCODE 22.4 -61.6 -61569 1.2 TBP PKNOX1 NFIB KLF17 RAD21 RFX5 FOS RCOR1 ZHX2 CEBPB DSP RIOK1 SSR1 HNRNPLP1 GC06P007475
GH06G007426 0.9 ENCODE 28.2 -114.5 -114518 0.9 ELF3 TBP FOXA2 ATF1 ARID4B DMAP1 THRB ZNF48 RARA GATA4 DSP RIOK1 BLOC1S5 LOC102724234 GC06M007431
GH06G007445 0.8 ENCODE 23.6 -94.9 -94888 1.6 CTCF KLF1 SAP130 KLF17 ARID4B DMAP1 ZNF48 ZIC2 RAD21 RARA DSP RIOK1 SNRNP48 SSR1 GC06M007440 GC06P007475
GH06G007388 1.2 ENCODE 15.4 -151.7 -151739 3.1 CREB3L1 MLX DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC SSRP1 RIOK1 SSR1 DSP ENSG00000225092 ENSG00000238221 CAGE1 GC06P007402
GH06G007540 1.6 Ensembl ENCODE dbSUPER 9.3 +6.5 6514 15.2 HNRNPUL1 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 FEZF1 ZNF2 SNRNP48 LOC644051 ENSG00000238221 DSP LOC101928076 GC06M007552
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DSP on UCSC Golden Path with GeneCards custom track

Promoters for DSP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000192801 1125 3400 HNRNPUL1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Transcription factor binding sites by QIAGEN in the DSP gene promoter:

Genomic Location for DSP Gene

Chromosome:
6
Start:
7,541,575 bp from pter
End:
7,586,717 bp from pter
Size:
45,143 bases
Orientation:
Plus strand

Genomic View for DSP Gene

Genes around DSP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DSP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DSP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DSP Gene

Proteins for DSP Gene

  • Protein details for DSP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15924-DESP_HUMAN
    Recommended name:
    Desmoplakin
    Protein Accession:
    P15924
    Secondary Accessions:
    • B2RTT2
    • D7RX09
    • O75993
    • Q14189
    • Q9UHN4

    Protein attributes for DSP Gene

    Size:
    2871 amino acids
    Molecular mass:
    331774 Da
    Quaternary structure:
    • Homodimer. Interacts with COL17A1 (via cytoplasmic region). Associates (via C-terminal) with KRT5-KRT14 (via rod region), KRT8-KRT18 and VIM intermediate filaments. Interacts with DSC2. Interacts with PKP2. Interacts weakly with TMEM65 (By similarity).

    Three dimensional structures from OCA and Proteopedia for DSP Gene

    Alternative splice isoforms for DSP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DSP Gene

Post-translational modifications for DSP Gene

  • Ser-2849 is probably phosphorylated by a cAMP-dependent protein kinase. Phosphorylation on Ser-2849 probably affects its association with epidermal, simple cytokeratins and VIM intermediate filaments.
  • Substrate of transglutaminase. Some glutamines and lysines are cross-linked to other desmoplakin molecules, to other proteins such as keratin, envoplakin, periplakin and involucrin, and to lipids like omega-hydroxyceramide (PubMed:9651377).
  • Ubiquitination at Lys94, Lys154, isoforms=2, 3931, and isoforms=2, 3949
  • Modification sites at PhosphoSitePlus

Other Protein References for DSP Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DSP (Desmoplakin)

No data available for DME Specific Peptides for DSP Gene

Domains & Families for DSP Gene

Gene Families for DSP Gene

Protein Domains for DSP Gene

Suggested Antigen Peptide Sequences for DSP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P15924

UniProtKB/Swiss-Prot:

DESP_HUMAN :
  • Its association with epidermal and simple keratins is dependent on the tertiary structure induced by heterodimerization of these intermediate filaments proteins and most likely involves recognition sites located in the rod domain of these keratins.
  • Belongs to the plakin or cytolinker family.
Domain:
  • Its association with epidermal and simple keratins is dependent on the tertiary structure induced by heterodimerization of these intermediate filaments proteins and most likely involves recognition sites located in the rod domain of these keratins.
  • The N-terminal region is required for localization to the desmosomal plaque and interacts with the N-terminal region of plakophilin 1.
  • The three tandem plakin repeat regions in the C-terminus mediate binding to intermediate filaments.
Family:
  • Belongs to the plakin or cytolinker family.
genes like me logo Genes that share domains with DSP: view

Function for DSP Gene

Molecular function for DSP Gene

GENATLAS Biochemistry:
desmoplakin DPI/II (desmosomal plaque component),BPAG1 homolog,intermediate filament associated protein (IFAP,type III),plakin family of cell junction proteins
UniProtKB/Swiss-Prot Function:
Major high molecular weight protein of desmosomes. Involved in the organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma membrane domains and in the anchoring of intermediate filaments to the desmosomes.

Gene Ontology (GO) - Molecular Function for DSP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0005080 protein kinase C binding IPI 18474624
GO:0005198 structural molecule activity IDA 10908733
GO:0005200 structural constituent of cytoskeleton TAS 9887343
GO:0005515 protein binding IPI 10852826
genes like me logo Genes that share ontologies with DSP: view
genes like me logo Genes that share phenotypes with DSP: view

Human Phenotype Ontology for DSP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DSP Gene

MGI Knock Outs for DSP:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DSP

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DSP Gene

Localization for DSP Gene

Subcellular locations from UniProtKB/Swiss-Prot for DSP Gene

Cell junction, desmosome. Cytoplasm, cytoskeleton. Cell membrane. Note=Innermost portion of the desmosomal plaque. Colocalizes with epidermal KRT5-KRT14 and simple KRT8-KRT18 keratins and VIM intermediate filaments network (PubMed:12802069). Localizes at the intercalated disk in cardiomyocytes (By similarity). {ECO:0000250 UniProtKB:E9Q557, ECO:0000269 PubMed:12802069}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DSP gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
cytoskeleton 4
cytosol 2

Gene Ontology (GO) - Cellular Components for DSP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope TAS --
GO:0005634 nucleus IDA 21630459
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005882 colocalizes_with intermediate filament ISS 16917092
genes like me logo Genes that share ontologies with DSP: view

Pathways & Interactions for DSP Gene

genes like me logo Genes that share pathways with DSP: view

Pathways by source for DSP Gene

Gene Ontology (GO) - Biological Process for DSP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002934 desmosome organization ISS 16917092
GO:0003223 ventricular compact myocardium morphogenesis ISS 16917092
GO:0008544 epidermis development TAS 9887343
GO:0016337 single organismal cell-cell adhesion IEA --
GO:0018149 peptide cross-linking IDA 10908733
genes like me logo Genes that share ontologies with DSP: view

No data available for SIGNOR curated interactions for DSP Gene

Drugs & Compounds for DSP Gene

(12) Drugs for DSP Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dexamethasone Approved, Investigational, Vet_approved Pharma Agonist 2171
BB 1101 Pharma 2171
Dexamethasone 21-phosphate Pharma 2171
Dexamethasone acetate Pharma 2171

(7) Additional Compounds for DSP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DSP: view

Transcripts for DSP Gene

Unigene Clusters for DSP Gene

Desmoplakin:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DSP

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DSP Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a ·
SP1: -
SP2: -
SP3:

ExUns: 23b ^ 24
SP1: -
SP2:
SP3:

Relevant External Links for DSP Gene

GeneLoc Exon Structure for
DSP
ECgene alternative splicing isoforms for
DSP

Expression for DSP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DSP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DSP Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x13.4), Skin - Not Sun Exposed (Suprapubic) (x11.7), Esophagus - Mucosa (x8.2), and Vagina (x4.5).

Protein differential expression in normal tissues from HIPED for DSP Gene

This gene is overexpressed in Hair follicle (23.2), Saliva (9.4), and Heart (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DSP Gene



Protein tissue co-expression partners for DSP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DSP Gene:

DSP

SOURCE GeneReport for Unigene cluster for DSP Gene:

Hs.519873

mRNA Expression by UniProt/SwissProt for DSP Gene:

P15924-DESP_HUMAN
Tissue specificity: Isoform DPI is apparently an obligate constituent of all desmosomes. Isoform DPII resides predominantly in tissues and cells of stratified origin.

Evidence on tissue expression from TISSUES for DSP Gene

  • Pancreas(5)
  • Skin(4.9)
  • Lung(4.8)
  • Liver(4.6)
  • Heart(3.9)
  • Intestine(3.9)
  • Kidney(2.9)
  • Muscle(2.9)
  • Eye(2.8)
  • Stomach(2.6)
  • Nervous system(2.5)
  • Blood(2.2)
  • Spleen(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DSP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • salivary gland
  • skull
  • tooth
Thorax:
  • breast
  • bronchus
  • esophagus
  • heart
  • heart valve
  • lung
  • trachea
Abdomen:
  • kidney
  • liver
  • spleen
Pelvis:
  • penis
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with DSP: view

Primer Products

Orthologs for DSP Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DSP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DSP 34 35
  • 99.56 (n)
oppossum
(Monodelphis domestica)
Mammalia DSP 35
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DSP 35
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DSP 34 35
  • 89.35 (n)
rat
(Rattus norvegicus)
Mammalia Dsp 34
  • 88.74 (n)
mouse
(Mus musculus)
Mammalia Dsp 34 16 35
  • 87.88 (n)
cow
(Bos Taurus)
Mammalia DSP 34 35
  • 86.79 (n)
chicken
(Gallus gallus)
Aves DSP 34 35
  • 74.13 (n)
lizard
(Anolis carolinensis)
Reptilia DSP 35
  • 75 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24434 34
zebrafish
(Danio rerio)
Actinopterygii dspa 34 35
  • 54.45 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MLP2 37
Species where no ortholog for DSP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DSP Gene

ENSEMBL:
Gene Tree for DSP (if available)
TreeFam:
Gene Tree for DSP (if available)

Paralogs for DSP Gene

Paralogs for DSP Gene

(1) SIMAP similar genes for DSP Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DSP: view

Variants for DSP Gene

Sequence variations from dbSNP and Humsavar for DSP Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs121912992 Pathogenic, Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8) [MIM:607450] 7,565,478(+) TGGAG(C/G/T)GACAA reference, synonymous-codon, missense
rs121912993 Pathogenic, Skin fragility-woolly hair syndrome (SFWHS) [MIM:607655] 7,565,442(+) ATCAA(G/T)GACTG reference, missense
rs28931610 Pathogenic, Skin fragility-woolly hair syndrome (SFWHS) [MIM:607655] 7,584,358(+) GTATT(C/T)GCTTA reference, missense
rs34738426 Uncertain significance, Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8) [MIM:607450] 7,581,514(+) ACAGA(G/T)AGAGA intron-variant, reference, missense
rs606231294 Pathogenic, Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis (DCWHKTA) [MIM:615821] 7,571,471(+) AGGCT(C/T)AGAGA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for DSP Gene

Variant ID Type Subtype PubMed ID
esv3570749 CNV loss 25503493
esv3608013 CNV gain 21293372
esv3890787 CNV loss 25118596
nsv1074373 CNV deletion 25765185
nsv1133014 OTHER inversion 24896259
nsv1151332 OTHER inversion 26484159
nsv462623 CNV gain 19166990
nsv462624 CNV loss 19166990
nsv470797 CNV gain 18288195
nsv5189 CNV insertion 18451855
nsv600890 CNV gain 21841781
nsv600916 CNV loss 21841781
nsv830580 CNV gain 17160897
nsv981350 CNV duplication 23825009

Variation tolerance for DSP Gene

Residual Variation Intolerance Score: 2.14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.96; 95.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DSP Gene

Human Gene Mutation Database (HGMD)
DSP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DSP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DSP Gene

Disorders for DSP Gene

MalaCards: The human disease database

(58) MalaCards diseases for DSP Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
skin fragility-woolly hair syndrome
  • skin fragility-woolly hair-palmoplantar keratoderma syndrome
cardiomyopathy, dilated, with woolly hair and keratoderma
  • cardiomyopathy dilated with woolly hair and keratoderma
epidermolysis bullosa, lethal acantholytic
  • ebla
arrhythmogenic right ventricular dysplasia 8
  • arrhythmogenic right ventricular cardiomyopathy 8
dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis
  • cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
- elite association - COSMIC cancer census association via MalaCards
Search DSP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DESP_HUMAN
  • Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8) [MIM:607450]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. {ECO:0000269 PubMed:12373648, ECO:0000269 PubMed:15941723, ECO:0000269 PubMed:20031617}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, dilated, with woolly hair and keratoderma (DCWHK) [MIM:605676]: An autosomal recessive cardiocutaneous syndrome characterized by a generalized striate keratoderma particularly affecting the palmoplantar epidermis, woolly hair, and dilated left ventricular cardiomyopathy. {ECO:0000269 PubMed:11063735}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis (DCWHKTA) [MIM:615821]: A cardiocutaneous syndrome characterized by biventricular dilated cardiomyopathy, hyperkeratosis, woolly hair, palmoplantar keratoderma, and hypo/oligodontia. {ECO:0000269 PubMed:16628197, ECO:0000269 PubMed:20940358, ECO:0000269 PubMed:22795705}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epidermolysis bullosa, lethal acantholytic (EBLA) [MIM:609638]: A form of epidermolysis bullosa characterized by severe fragility of skin and mucous membranes. The phenotype is lethal in the neonatal period because of immense transcutaneous fluid loss. Typical features include universal alopecia, neonatal teeth, and nail loss. Histopathology of the skin shows suprabasal clefting and acantholysis throughout the spinous layer, mimicking pemphigus. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Keratoderma, palmoplantar, striate 2 (SPPK2) [MIM:612908]: A dermatological disorder characterized by thickening of the skin on the palms (linear pattern) and the soles (island-like pattern) and flexor aspect of the fingers. Abnormalities of the nails, the teeth and the hair are rarely present. {ECO:0000269 PubMed:9887343}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Skin fragility-woolly hair syndrome (SFWHS) [MIM:607655]: An autosomal recessive genodermatosis characterized by skin fragility with blistering, focal and diffuse palmoplantar keratoderma, hyperkeratotic plaques on the trunk and limbs, and woolly hair with varying degrees of alopecia. {ECO:0000269 PubMed:11841538}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DSP

Genetic Association Database (GAD)
DSP
Human Genome Epidemiology (HuGE) Navigator
DSP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DSP
genes like me logo Genes that share disorders with DSP: view

No data available for Genatlas for DSP Gene

Publications for DSP Gene

  1. Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. (PMID: 19863551) Barahona-Dussault C. … Brugada R. (Clin. Genet. 2010) 3 4 46 64
  2. Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PMID: 20031617) den Haan A.D. … Judge D.P. (Circ. Cardiovasc. Genet. 2009) 3 4 46 64
  3. Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations. (PMID: 15941723) Bauce B. … Nava A. (Eur. Heart J. 2005) 3 4 22 64
  4. Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. (PMID: 16175511) Jonkman M.F. … Pas H.H. (Am. J. Hum. Genet. 2005) 3 4 22 64
  5. Structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure. (PMID: 12101406) Choi H.J. … Weis W.I. (Nat. Struct. Biol. 2002) 3 4 22 64

Products for DSP Gene

Sources for DSP Gene

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