Aliases for DSP Gene
External Ids for DSP Gene
Previous GeneCards Identifiers 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 Innate Immune System and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (GO) annotations related to this gene include structural constituent of cytoskeleton. An important paralog of this gene is PLEC.
UniProtKB/Swiss-Prot Summary 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.