Aliases for DSG4 Gene
External Ids for DSG4 Gene
Previous GeneCards Identifiers for DSG4 Gene
This gene encodes a member of the desmoglein subgroup of desmosomal cadherins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a transmembrane component of desmosomes and may play a role in cell-cell adhesion in epithelial cells. Mutations in the gene are associated with localized autosomal recessive hypotrichosis and monilethrix, characterized by impaired hair growth. [provided by RefSeq, May 2016]
GeneCards Summary for DSG4 Gene
DSG4 (Desmoglein 4) is a Protein Coding gene. Diseases associated with DSG4 include Hypotrichosis 6 and Hypotrichosis Simplex. Among its related pathways are Developmental Biology and Keratinization. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is DSG3.
UniProtKB/Swiss-Prot Summary for DSG4 Gene
Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. Coordinates the transition from proliferation to differentiation in hair follicle keratinocytes (By similarity).