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Official Full Name
dystonin
Background
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.
Synonyms
DST; dystonin; BPAG1, bullous pemphigoid antigen 1, 230/240kDa; bullous pemphigoid antigen 1; BP240; BPA; CATX 15; FLJ13425; FLJ21489; FLJ30627; FLJ32235; KIAA0728; MACF2; 230 kDa bullous pemphigoid antigen; 230/240 kDa bullous pemphigoid antigen; BP230; BPAG1; Bullous pemphigoid antigen; DMH; DT; Dystonia musculorum protein; Hemidesmosomal plaque protein; trabeculin-beta; OTTHUMP00000016653; OTTHUMP00000016654; OTTHUMP00000016655; OTTHUMP00000016657; OTTHUMP00000016658; OTTHUMP00000224445; CATX15; CATX-15; D6S1101; bullous pemphigoid antigen 1, 230/240kDa; FLJ46791; KIAA0465; KIAA1470; DKFZp564B2416