Aliases for EVPL Gene
External Ids for EVPL Gene
Previous GeneCards Identifiers for EVPL Gene
This gene encodes a member of the plakin family of proteins that forms a component of desmosomes and the epidermal cornified envelope. This gene is located in the tylosis oesophageal cancer locus on chromosome 17q25, and its deletion is associated with both familial and sporadic forms of oesophageal squamous cell carcinoma. Patients suffering from the autoimmune mucocutaneous disorder, paraneoplastic pemphigus, develop antibodies against the encoded protein. [provided by RefSeq, Jul 2016]
GeneCards Summary for EVPL Gene
EVPL (Envoplakin) is a Protein Coding gene. Diseases associated with EVPL include Paraneoplastic Pemphigus and Pemphigus. Among its related pathways are Cytoskeleton remodeling Neurofilaments and Developmental Biology. Gene Ontology (GO) annotations related to this gene include structural molecule activity and intermediate filament binding. An important paralog of this gene is PPL.
UniProtKB/Swiss-Prot Summary for EVPL Gene
Component of the cornified envelope of keratinocytes. May link the cornified envelope to desmosomes and intermediate filaments.