Aliases for DSP Gene
External Ids for DSP Gene
Previous GeneCards Identifiers for DSP Gene
Desmosomes are intercellular junctions that tightly link adjacent cells. Desmoplakin is an obligate component of functional desmosomes that anchors intermediate filaments to desmosomal plaques. The N-terminus of desmoplakin is required for localization to the desmosome and interacts with the N-terminal region of plakophilin 1 and plakoglobin. The C-terminus of desmoplakin binds with intermediate filaments. In the mid-region of desmoplakin, a coiled-coiled rod domain is responsible for homodimerization. Mutations in this gene are the cause of several cardiomyopathies and keratodermas as well as the autoimmune disease paraneoplastic pemphigus. [provided by RefSeq, Jul 2008]
GeneCards Summary for DSP Gene
DSP (Desmoplakin) is a Protein Coding gene. Diseases associated with DSP include skin fragility-woolly hair syndrome and skin fragility-woolly hair-palmoplantar keratoderma syndrome. Among its related pathways are ERK Signaling and Adhesion. GO annotations related to this gene include poly(A) RNA binding and structural constituent of cytoskeleton. An important paralog of this gene is DST.
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