Aliases for DST Gene
External Ids for DST Gene
Previous HGNC Symbols for DST Gene
Previous GeneCards Identifiers for DST Gene
This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of some variants has not been defined. It has been reported that some isoforms are expressed in neural and muscle tissue, anchoring neural intermediate filaments to the actin cytoskeleton, and some isoforms are expressed in epithelial tissue, anchoring keratin-containing intermediate filaments to hemidesmosomes. Consistent with the expression, mice defective for this gene show skin blistering and neurodegeneration. [provided by RefSeq, Mar 2010]
GeneCards Summary for DST Gene
DST (Dystonin) is a Protein Coding gene. Diseases associated with DST include Neuropathy, Hereditary Sensory And Autonomic, Type Vi and Epidermolysis Bullosa Simplex, Sutosomal Recessive 2. Among its related pathways are Cell junction organization and Collagen biosynthesis and modifying enzymes. GO annotations related to this gene include calcium ion binding and actin binding. An important paralog of this gene is MACF1.
UniProtKB/Swiss-Prot for DST Gene
Cytoskeletal linker protein. Acts as an integrator of intermediate filaments, actin and microtubule cytoskeleton networks. Required for anchoring either intermediate filaments to the actin cytoskeleton in neural and muscle cells or keratin-containing intermediate filaments to hemidesmosomes in epithelial cells. The proteins may self-aggregate to form filaments or a two-dimensional mesh.
Isoform 3: plays a structural role in the assembly of hemidesmosomes of epithelial cells; anchors keratin-containing intermediate filaments to the inner plaque of hemidesmosomes. Required for the regulation of keratinocyte polarity and motility; mediates integrin ITGB4 regulation of RAC1 activity.
Isoform 6: required for bundling actin filaments around the nucleus.
Isoform 7: regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport.