Desmoplakin

DSP
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3R6N, 1LM5, 1LM7, 5DZZ
Identifiers
Aliases	DSP, DCWHKTA, DP, DPI, DPII, desmoplakin
External IDs	OMIM: 125647; MGI: 109611; HomoloGene: 37922; GeneCards: DSP; OMA:DSP - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6p24.3 Start 7,541,617 bp[1] End 7,586,714 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13|13 A3.3 Start 38,335,270 bp[2] End 38,382,553 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of hip skin of thigh hair follicle gingival epithelium human penis vulva skin of arm oral cavity nipple mucosa of pharynx Top expressed in conjunctival fornix skin of external ear corneal stroma epidermis hair follicle skin of back ascending aorta myocardium of ventricle aortic valve cardiac muscle tissue of left ventricle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein-macromolecule adaptor activity scaffold protein binding structural molecule activity structural constituent of cytoskeleton protein binding cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication cell adhesion molecule binding protein kinase C binding RNA binding Cellular component cytoplasm membrane intercalated disc cell-cell junction plasma membrane desmosome cell junction basolateral plasma membrane fascia adherens extracellular exosome cytoskeleton intermediate filament nucleus extracellular matrix cornified envelope ficolin-1-rich granule membrane Biological process intermediate filament organization desmosome organization ventricular compact myocardium morphogenesis wound healing bundle of His cell-Purkinje myocyte adhesion involved in cell communication keratinocyte differentiation peptide cross-linking protein localization to adherens junction epidermis development intermediate filament cytoskeleton organization adherens junction organization regulation of heart rate by cardiac conduction regulation of ventricular cardiac muscle cell action potential skin development keratinization neutrophil degranulation cornification cell-cell adhesion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1832 109620 Ensembl ENSG00000096696 ENSMUSG00000054889 UniProt P15924 E9Q557 RefSeq (mRNA) NM_001008844 NM_004415 NM_001319034 NM_023842 RefSeq (protein) NP_001008844 NP_001305963 NP_004406 NP_076331 Location (UCSC) Chr 6: 7.54 – 7.59 Mb Chr 13: 38.34 – 38.38 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Cell adhesion in desmosomes

Desmoplakin is a protein in humans that is encoded by the DSP gene.[5][6][7] Desmoplakin is a critical component of desmosome structures in cardiac muscle and epidermal cells, which function to maintain the structural integrity at adjacent cell contacts. In cardiac muscle, desmoplakin is localized to intercalated discs which mechanically couple cardiac cells to function in a coordinated syncytial structure. Mutations in desmoplakin have been shown to play a role in dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy, where it may present with acute myocardial injury;[8][9] striate palmoplantar keratoderma, Carvajal syndrome and paraneoplastic pemphigus.

Structure

Desmoplakin exists as two predominant isoforms; the first, known as "DPII", has molecular weight 260.0 kDa (2272 amino acids) and the second, known as "DPI", has molecular weight 332.0 kDa (2871 amino acids).[10][11] These isoforms are identical except for the shorter rod domain in DPII. DPI is the predominant isoform expressed in cardiac muscle.[12] The DSP gene is located on chromosome 6p24.3, containing 24 exons and spanning approximately 45 kDa of genomic DNA.[13] Desmoplakin is a large desmosomal plaque protein that homodimerizes and adopts a dumbbell-shaped conformation.[13] The N-terminal globular head domain of desmoplakin is composed of a series of alpha helical bundles, and is required for both the localization to the desmosome and interaction with the N-terminal region of plakophilin 1 and plakoglobin as well as desmocollin and desmoglein.[14] This is further sub divided into a region called the "Plakin domain" made up of six spectrin repeat domains separated by SH3 domain.[15] A crystal structure of part of the plakin domain has been resolved,[16] while the entire plakin domain has been elucidated using small angle X-ray scattering which revealed a non-linear structure, an unexpected result considering spectrin repeats are observed in linear orientations.[17] The C-terminal region of desmoplakin is composed of three plakin repeat domains, termed A, B and C, which are essential for coalignment and binding of intermediate filaments.[14][18][19] Located at the most distal C-terminus of desmoplakin is a region rich in glycine–serine–arginine; it has been demonstrated that serine phosphorylation of this domain may modify desmoplakin-intermediate filament interactions.[20] In the mid-region of desmoplakin, a coiled-coil rod domain is responsible for homodimerization.[21]

Function

Desmosomes are intercellular junctions that tightly link adjacent cells. Desmoplakin is an obligate component of functional desmosomes that anchors intermediate filaments to desmosomal plaques. In cardiomyocytes, desmoplakin forms desmosomal plaques with the intermediate filament desmin, whereas in endothelial cells cytokeratin type intermediate filaments are recruited, and vimentin in arachnoid and follicular dendritic cell types.[21][22] Both types of intermediate filaments attach in a lateral fashion to desmoplakin to form the plaque.[23] In cardiac muscle, desmoplakin is localized to desmosomes in intercalated discs. Desmoplakin isoform DPI is highly expressed and is thought to play a role in both the assembly and stabilization of desmosomes; its role is critical, as desmoplakin knockout mice display embryonic lethality.[24] In mice overexpressing a C-terminal mutated desmoplakin protein, desmoplakin binding to desmin is disrupted in cardiac muscle and hearts display abnormal intercalated disc formation and structure.[25] Much has been learned regarding desmoplakin function from mutations in patients with arrhythmogenic right ventricular cardiomyopathy, where mutations in specific binding domains alter desmoplakin binding to plakoglobin or desmin and result in cell death and dysfunction.[26]

Clinical significance

Mutations in this gene are the cause of several cardiomyopathies, including dilated cardiomyopathy[27][28] and arrhythmogenic right ventricular cardiomyopathy.[25][29][30][31][32][17] The presence of pathogenic mutations in this gene has been associated with episodes of acute myocardial injury, which may mimic episodes of myocarditis.[33][34] Mutations in DSP have also been associated with striate palmoplantar keratoderma.[27][31][35][36][37] Carvajal syndrome results from an autosomal recessive mutation of a frameshift (7901delG) in DSP that results in a combination of above conditions, including dilated cardiomyopathy, keratoderma and woolly hair.[38] Patients with Carvajal syndrome often suffer from heart failure in teenage years. A case of compound heterozygosity for two DSP nonsense mutations resulting in lethal acantholytic epidermolysis bullosa has been reported.[39][40] Autoantibodies to DSP are a hallmark of the autoimmune disease paraneoplastic pemphigus.[41][42] Decreased desmoplakin expression has been found in patients with oropharyngeal cancer and breast cancer, which may alter cell-cell adhesion properties and propagate metastasis.[43][44]

Interactions

Desmoplakin has been shown to interact with:

• Desmin,[45]
• Keratin 1,[45]
• PKP1[46]
• PKP2,[47]
• Plakoglobin,[48][49] and
• Vimentin.[45]

See also

• List of target antigens in pemphigus
• List of conditions caused by problems with junctional proteins

References

1. GRCh38: Ensembl release 89: ENSG00000096696 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000054889 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Arnemann J, Spurr NK, Wheeler GN, Parker AE, Buxton RS (October 1991). "Chromosomal assignment of the human genes coding for the major proteins of the desmosome junction, desmoglein DGI (DSG), desmocollins DGII/III (DSC), desmoplakins DPI/II (DSP), and plakoglobin DPIII (JUP)". Genomics. 10 (3): 640–5. doi:10.1016/0888-7543(91)90446-L. PMID 1889810.
6. "Entrez Gene: DSP desmoplakin".
7. Bornslaeger EA, Corcoran CM, Stappenbeck TS, Green KJ (August 1996). "Breaking the connection: displacement of the desmosomal plaque protein desmoplakin from cell-cell interfaces disrupts anchorage of intermediate filament bundles and alters intercellular junction assembly". J. Cell Biol. 134 (4): 985–1001. doi:10.1083/jcb.134.4.985. PMC 2120955. PMID 8769422.
8. Schoonvelde SA, Hirsch A, Yap SC (2022). "Desmoplakin cardiomyopathy—an inherited cardiomyopathy presenting with recurrent episodes of acute myocardial injury". Neth Heart J. 31 (7–8): 282–286. doi:10.1007/s12471-022-01735-2. PMC 10400739. PMID 36434384.
9. Scheel PJ, Murray B, Tichnell C (2021). "Arrhythmogenic right ventricular cardiomyopathy presenting as clinical myocarditis in women". Am J Cardiol. 145: 128–134. doi:10.1016/j.amjcard.2020.12.090. PMID 33460606. S2CID 231641047.
10. "Protein sequence of human desmoplakin (Uniprot ID: P15924)". Cardiac Organellar Protein Atlas Knowledgabase (COPaKB). Archived from the original on 27 June 2015. Retrieved 26 June 2015.
11. "Protein sequence of human desmoplakin (Uniprot ID: P15924-2)". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB). Archived from the original on 27 June 2015. Retrieved 26 June 2015.
12. Al-Jassar C, Bikker H, Overduin M, Chidgey M (Nov 2013). "Mechanistic basis of desmosome-targeted diseases". Journal of Molecular Biology. 425 (21): 4006–22. doi:10.1016/j.jmb.2013.07.035. PMC 3807649. PMID 23911551.
13. Green KJ, Parry DA, Steinert PM, Virata ML, Wagner RM, Angst BD, Nilles LA (Feb 1990). "Structure of the human desmoplakins. Implications for function in the desmosomal plaque". The Journal of Biological Chemistry. 265 (5): 2603–12. doi:10.1016/S0021-9258(19)39844-8. PMID 1689290.
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15. Jefferson JJ, Ciatto C, Shapiro L, Liem RK (Feb 2007). "Structural analysis of the plakin domain of bullous pemphigoid antigen1 (BPAG1) suggests that plakins are members of the spectrin superfamily". Journal of Molecular Biology. 366 (1): 244–57. doi:10.1016/j.jmb.2006.11.036. PMC 1850962. PMID 17161423.
16. Choi HJ, Weis WI (2011). "Crystal structure of a rigid four-spectrin-repeat fragment of the human desmoplakin plakin domain". J. Mol. Biol. 409 (5): 800–12. doi:10.1016/j.jmb.2011.04.046. PMC 3107870. PMID 21536047.
17. Al-Jassar C, Knowles T, Jeeves M, Kami K, Behr E, Bikker H, Overduin M, Chidgey M (2011). "The nonlinear structure of the desmoplakin plakin domain and the effects of cardiomyopathy-linked mutations". J. Mol. Biol. 411 (5): 1049–61. doi:10.1016/j.jmb.2011.06.047. PMID 21756917.
18. Choi HJ, Park-Snyder S, Pascoe LT, Green KJ, Weis WI (Aug 2002). "Structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure". Nature Structural Biology. 9 (8): 612–20. doi:10.1038/nsb818. PMID 12101406. S2CID 10611026.
19. Stappenbeck TS, Bornslaeger EA, Corcoran CM, Luu HH, Virata ML, Green KJ (Nov 1993). "Functional analysis of desmoplakin domains: specification of the interaction with keratin versus vimentin intermediate filament networks". The Journal of Cell Biology. 123 (3): 691–705. doi:10.1083/jcb.123.3.691. PMC 2200123. PMID 7693716.
20. Stappenbeck TS, Lamb JA, Corcoran CM, Green KJ (Nov 1994). "Phosphorylation of the desmoplakin COOH terminus negatively regulates its interaction with keratin intermediate filament networks". The Journal of Biological Chemistry. 269 (47): 29351–4. doi:10.1016/S0021-9258(18)43881-1. PMID 7525582.
21. Garrod D, Chidgey M (Mar 2008). "Desmosome structure, composition and function". Biochimica et Biophysica Acta (BBA) - Biomembranes. 1778 (3): 572–87. doi:10.1016/j.bbamem.2007.07.014. PMID 17854763.
22. Kartenbeck J, Schwechheimer K, Moll R, Franke WW (Mar 1984). "Attachment of vimentin filaments to desmosomal plaques in human meningiomal cells and arachnoidal tissue". The Journal of Cell Biology. 98 (3): 1072–81. doi:10.1083/jcb.98.3.1072. PMC 2113124. PMID 6365927.
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27. Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP, Kelsell DP (Nov 2000). "Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma". Human Molecular Genetics. 9 (18): 2761–6. doi:10.1093/hmg/9.18.2761. PMID 11063735.
28. Carvajal-Huerta L (Sep 1998). "Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy". Journal of the American Academy of Dermatology. 39 (3): 418–21. doi:10.1016/s0190-9622(98)70317-2. PMID 9738775.
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30. Alcalai R, Metzger S, Rosenheck S, Meiner V, Chajek-Shaul T (Jul 2003). "A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair". Journal of the American College of Cardiology. 42 (2): 319–27. doi:10.1016/s0735-1097(03)00628-4. PMID 12875771.
31. Uzumcu A, Norgett EE, Dindar A, Uyguner O, Nisli K, Kayserili H, Sahin SE, Dupont E, Severs NJ, Leigh IM, Yuksel-Apak M, Kelsell DP, Wollnik B (Feb 2006). "Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome". Journal of Medical Genetics. 43 (2): e5. doi:10.1136/jmg.2005.032904. PMC 2564645. PMID 16467215.
32. van der Zwaag PA, Jongbloed JD, van den Berg MP, van der Smagt JJ, Jongbloed R, Bikker H, Hofstra RM, van Tintelen JP (Sep 2009). "A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy". Human Mutation. 30 (9): 1278–83. doi:10.1002/humu.21064. PMID 19569224. S2CID 7138963.
33. Schoonvelde SA, Hirsch A, Yap SC (2022). "Desmoplakin cardiomyopathy—an inherited cardiomyopathy presenting with recurrent episodes of acute myocardial injury". Neth Heart J. 31 (7–8): 282–286. doi:10.1007/s12471-022-01735-2. PMC 10400739. PMID 36434384.
34. Scheel PJ, Murray B, Tichnell C (2021). "Arrhythmogenic right ventricular cardiomyopathy presenting as clinical myocarditis in women". Am J Cardiol. 145: 128–134. doi:10.1016/j.amjcard.2020.12.090. PMID 33460606. S2CID 231641047.
35. Armstrong DK, McKenna KE, Purkis PE, Green KJ, Eady RA, Leigh IM, Hughes AE (Jan 1999). "Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma". Human Molecular Genetics. 8 (1): 143–8. doi:10.1093/hmg/8.1.143. PMID 9887343.
36. Whittock NV, Ashton GH, Dopping-Hepenstal PJ, Gratian MJ, Keane FM, Eady RA, McGrath JA (Dec 1999). "Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency". The Journal of Investigative Dermatology. 113 (6): 940–6. doi:10.1046/j.1523-1747.1999.00783.x. PMID 10594734.
37. Whittock NV, Wan H, Morley SM, Garzon MC, Kristal L, Hyde P, McLean WH, Pulkkinen L, Uitto J, Christiano AM, Eady RA, McGrath JA (Feb 2002). "Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome". The Journal of Investigative Dermatology. 118 (2): 232–8. doi:10.1046/j.0022-202x.2001.01664.x. PMID 11841538.
38. Carvajal-Huerta L (Sep 1998). "Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy". Journal of the American Academy of Dermatology. 39 (3): 418–21. doi:10.1016/s0190-9622(98)70317-2. PMID 9738775.
39. Jonkman MF, Pasmooij AM, Pasmans SG, van den Berg MP, Ter Horst HJ, Timmer A, Pas HH (Oct 2005). "Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa". American Journal of Human Genetics. 77 (4): 653–60. doi:10.1086/496901. PMC 1275614. PMID 16175511.
40. McGrath JA, Bolling MC, Jonkman MF (Jan 2010). "Lethal acantholytic epidermolysis bullosa". Dermatologic Clinics. 28 (1): 131–5. doi:10.1016/j.det.2009.10.015. PMID 19945626. S2CID 36535041.
41. Anhalt GJ, Kim SC, Stanley JR, Korman NJ, Jabs DA, Kory M, Izumi H, Ratrie H, Mutasim D, Ariss-Abdo L (Dec 1990). "Paraneoplastic pemphigus. An autoimmune mucocutaneous disease associated with neoplasia". The New England Journal of Medicine. 323 (25): 1729–35. doi:10.1056/NEJM199012203232503. PMID 2247105.
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43. Papagerakis S, Shabana AH, Pollock BH, Papagerakis P, Depondt J, Berdal A (Sep 2009). "Altered desmoplakin expression at transcriptional and protein levels provides prognostic information in human oropharyngeal cancer". Human Pathology. 40 (9): 1320–9. doi:10.1016/j.humpath.2009.02.002. PMID 19386346.
44. Pang H, Rowan BG, Al-Dhaheri M, Faber LE (2004). "Epidermal growth factor suppresses induction by progestin of the adhesion protein desmoplakin in T47D breast cancer cells". Breast Cancer Research. 6 (3): R239–45. doi:10.1186/bcr780. PMC 400677. PMID 15084247.
45. Meng JJ, Bornslaeger EA, Green KJ, Steinert PM, Ip W (August 1997). "Two-hybrid analysis reveals fundamental differences in direct interactions between desmoplakin and cell type-specific intermediate filaments". J. Biol. Chem. 272 (34): 21495–503. doi:10.1074/jbc.272.34.21495. PMID 9261168.
46. Hofmann I, Mertens C, Brettel M, Nimmrich V, Schnölzer M, Herrmann H (July 2000). "Interaction of plakophilins with desmoplakin and intermediate filament proteins: an in vitro analysis". J. Cell Sci. 113 (13): 2471–83. doi:10.1242/jcs.113.13.2471. PMID 10852826.
47. Chen X, Bonne S, Hatzfeld M, van Roy F, Green KJ (March 2002). "Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling". J. Biol. Chem. 277 (12): 10512–22. doi:10.1074/jbc.M108765200. PMID 11790773.
48. Kowalczyk AP, Navarro P, Dejana E, Bornslaeger EA, Green KJ, Kopp DS, Borgwardt JE (October 1998). "VE-cadherin and desmoplakin are assembled into dermal microvascular endothelial intercellular junctions: a pivotal role for plakoglobin in the recruitment of desmoplakin to intercellular junctions". J. Cell Sci. 111 (20): 3045–57. doi:10.1242/jcs.111.20.3045. PMID 9739078.
49. Kowalczyk AP, Bornslaeger EA, Borgwardt JE, Palka HL, Dhaliwal AS, Corcoran CM, Denning MF, Green KJ (November 1997). "The amino-terminal domain of desmoplakin binds to plakoglobin and clusters desmosomal cadherin-plakoglobin complexes". J. Cell Biol. 139 (3): 773–84. doi:10.1083/jcb.139.3.773. PMC 2141713. PMID 9348293.

Further reading

• Presland RB, Dale BA (2000). "Epithelial structural proteins of the skin and oral cavity: function in health and disease". Crit. Rev. Oral Biol. Med. 11 (4): 383–408. doi:10.1177/10454411000110040101. PMID 11132762.
• Just M, Herbst H, Hummel M, Dürkop H, Tripier D, Stein H, Schuppan D (1991). "Undulin is a novel member of the fibronectin-tenascin family of extracellular matrix glycoproteins". J. Biol. Chem. 266 (26): 17326–32. doi:10.1016/S0021-9258(19)47377-8. PMID 1716629.
• Virata ML, Wagner RM, Parry DA, Green KJ (1992). "Molecular structure of the human desmoplakin I and II amino terminus". Proc. Natl. Acad. Sci. U.S.A. 89 (2): 544–8. Bibcode:1992PNAS...89..544V. doi:10.1073/pnas.89.2.544. PMC 48275. PMID 1731325.
• Green KJ, Parry DA, Steinert PM, Virata ML, Wagner RM, Angst BD, Nilles LA (1990). "Structure of the human desmoplakins. Implications for function in the desmosomal plaque". J. Biol. Chem. 265 (19): 11406–7. doi:10.1016/S0021-9258(19)38608-9. PMID 2391353.
• Kouklis PD, Hutton E, Fuchs E (1994). "Making a connection: direct binding between keratin intermediate filaments and desmosomal proteins". J. Cell Biol. 127 (4): 1049–60. doi:10.1083/jcb.127.4.1049. PMC 2200061. PMID 7525601.
• Steinert PM, Marekov LN (1997). "Direct evidence that involucrin is a major early isopeptide cross-linked component of the keratinocyte cornified cell envelope". J. Biol. Chem. 272 (3): 2021–30. doi:10.1074/jbc.272.3.2021. PMID 8999895.
• Olavesen MG, Bentley E, Mason RV, Stephens RJ, Ragoussis J (1997). "Fine mapping of 39 ESTs on human chromosome 6p23-p25". Genomics. 46 (2): 303–6. doi:10.1006/geno.1997.5032. PMID 9417921.
• Marekov LN, Steinert PM (1998). "Ceramides are bound to structural proteins of the human foreskin epidermal cornified cell envelope". J. Biol. Chem. 273 (28): 17763–70. doi:10.1074/jbc.273.28.17763. PMID 9651377.
• Suzuki M, Okuyama S, Okamoto S, Shirasuna K, Nakajima T, Hachiya T, Nojima H, Sekiya S, Oda K (1998). "A novel E2F binding protein with Myc-type HLH motif stimulates E2F-dependent transcription by forming a heterodimer". Oncogene. 17 (7): 853–65. doi:10.1038/sj.onc.1202163. PMID 9780002. S2CID 23588950.
• Dias Neto E, Correa RG, Verjovski-Almeida S, Briones MR, Nagai MA, da Silva W, Zago MA, Bordin S, Costa FF, Goldman GH, Carvalho AF, Matsukuma A, Baia GS, Simpson DH, Brunstein A, de Oliveira PS, Bucher P, Jongeneel CV, O'Hare MJ, Soares F, Brentani RR, Reis LF, de Souza SJ, Simpson AJ (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. Bibcode:2000PNAS...97.3491D. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.

External links

• GeneReviews/NCBI/NIH/UW entry on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant
• OMIM entries on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant
• Desmoplakins at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Overview of all the structural information available in the PDB for UniProt: P15924 (Desmoplakin) at the PDBe-KB.