GENETIC ENCYCLOPEDIA
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gene: DST

id667
symbolDST
organismHomo sapiens
full namedystonin
summaryThis 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]
variant-disease

NM_015548.5(DST):c.3319-438G>C AND Neuropathy, hereditary sensory and autonomic, type VI

NM_015548.5(DST):c.3319-1492G>A AND Neuropathy, hereditary sensory and autonomic, type VI

NM_015548.5(DST):c.3220-3C>A AND Neuropathy, hereditary sensory and autonomic, type VI

NM_015548.5(DST):c.645A>T (p.Ser215=) AND Neuropathy, hereditary sensory and autonomic, type VI

NM_015548.5(DST):c.3318+4452C>A AND Neuropathy, hereditary sensory and autonomic, type VI

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