DST

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DST

A gene on chromosome 6p12.1 that encodes dystonin, a cytoskeletal linker protein which integrates intermediate filaments, actin and the microtubule cytoskeleton network, and is 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 reticulum.

DST isoform 3 plays a structural role in assembling hemidesmosomes of epithelial cells; it anchors keratin-containing intermediate filaments to the inner plaque of hemidesmosomes and is required for regulating keratinocyte polarity and motility; it mediates integrin ITGB4 regulation of RAC1 activity. DST isoform 6 is required for bundling actin filaments around the nucleus. DST isoform 7 regulates the organisation and stability of the microtubule network of sensory neurons to allow axonal transport.

Molecular pathology
Defects of DST cause hereditary sensory and autonomic neuropathy type 6.
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(LAS007) CARLO DI BIAGIO - DUCATI MOTOR HOLDINGS SA (DMH).
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