DSP desmoplakin [ Homo sapiens (human) ]
Source: NCBI Gene (ID 1832)
Symbol: DSP
Full name: desmoplakin
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Also known as: DCWHKTA; DP
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]
Expression: Biased expression in skin (RPKM 438.1), esophagus (RPKM 191.0) and 7 other tissues
Orthologs: mouse
Gene size: 45044bp
Exon count: 24