Desmoplakin

DSP
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesDSP, DCWHKTA, DP, DPI, DPII, desmoplakin
External IDsOMIM: 125647; MGI: 109611; HomoloGene: 37922; GeneCards: DSP; OMA:DSP - orthologs
Orthologs
SpeciesHumanMouse
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 MbChr 13: 38.34 – 38.38 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Desmoplakin is a protein in humans that is encoded by the DSP gene. 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; striate palmoplantar keratoderma, Carvajal syndrome and paraneoplastic pemphigus.