dystonin

Dystonin (DST) is a protein-coding gene located on chromosome 6p12.1. The gene encodes the protein dystonin, a member of the plakin protein family of adhesion junction proteins.

Several alternatively spliced transcript variants have been found for the DST gene, encoding different isoforms whose full-length nature has not yet been defined.

Some isoforms are expressed in neural and muscle tissue and anchor neural intermediate filaments to the actin cytoskeleton, whereas other isoforms are expressed in epithelial tissue and anchor keratin-containing intermediate filaments to hemidesmosomes. In animal experiments, mice, with mutations in this gene, show skin blistering and neurodegeneration.

For further details see below DST gene