DST

(redirected from BPAG1)
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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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References in periodicals archive ?
Lately, she has concentrated on a gene known as BPAG1, which has been implicated in a blistering disease called bullous pemphigold (BP).
Autoantibodies bound to autoantigens, the glycoproteins BPAG1 (230 kD) and BPAG2 (180 kD), localized in the basement membrane of the epidermis activate a series of immunological and enzymatic phenomena leading to the destruction of basement membrane components and the formation of blisters, as observed in DH [7, 8].
Autoantibodies binding to autoantigens (glycoproteins: 230 kD (BPAG1) and 180 kD (BPAG2)) localized in the basement membrane of the epidermis activate a series of immunological and enzymatic phenomena leading to destruction of basement membrane components and anchoring fibers and blister formation as in DH [7, 8],