Mouse Anti-DST Recombinant Antibody (CB314A) (V2LY-0425-LY1012)

Dystonin

Cytoskeletal linker protein. Acts as an integrator of intermediate filaments, actin and microtubule cytoskeleton networks. 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 mesh. Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. Mediates docking of the dynein/dynactin motor complex to vesicle cargos for retrograde axonal transport through its interaction with TMEM108 and DCTN1 (By similarity).

Isoform 3:
plays a structural role in the assembly of hemidesmosomes of epithelial cells; anchors keratin-containing intermediate filaments to the inner plaque of hemidesmosomes. Required for the regulation of keratinocyte polarity and motility; mediates integrin ITGB4 regulation of RAC1 activity.

Isoform 6:
required for bundling actin filaments around the nucleus.

Isoform 7:
regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport.

Cell adhesion Source: UniProtKB-KW
Cell motility Source: UniProtKB
Cytoplasmic microtubule organization Source: GO_Central
Cytoskeleton organization Source: UniProtKB
Hemidesmosome assembly Source: UniProtKB
Integrin-mediated signaling pathway Source: UniProtKB
Intermediate filament cytoskeleton organization Source: UniProtKB
Maintenance of cell polarity Source: UniProtKB
Microtubule cytoskeleton organization Source: UniProtKB
Response to wounding Source: UniProtKB
Retrograde axonal transport Source: UniProtKB
Wound healing Source: GO_Central

Cytoskeleton; Stress fiber; Axon. Associates with intermediate filaments, actin and microtubule cytoskeletons. Localizes to actin stress fibers and to actin-rich ruffling at the cortex of cells (By similarity). Associated at the growing distal tip of microtubules.
Isoform 1: Cytoskeleton; Z line; H zone. Localizes to microtubules and actin microfilaments throughout the cytoplasm and at focal contact attachments at the plasma membrane.
Isoform 2: Cytoskeleton. Colocalizes both cortical and cytoplasmic actin filaments.
Isoform 3: Cytoskeleton; Hemidesmosome. Localizes to actin and intermediate filaments cytoskeletons (By similarity). Colocalizes with the epidermal KRT5-KRT14 intermediate filaments network of keratins. Colocalizes with ITGB4 at the leading edge of migrating keratinocytes.
Isoform 6: Cytoskeleton; Stress fiber; Endoplasmic reticulum membrane; Nucleus; Nucleus envelope; Membrane. Localizes to actin and intermediate filaments cytoskeletons. Localizes to central actin stress fibers around the nucleus and is excluded form focal contact sites in myoblast cells. Translocates to the nucleus (By similarity). Associates with actin cytoskeleton in sensory neurons.
Isoform 7: Cytoskeleton; Axon; Membrane. Associates with axonal microtubules and intermediate filaments, but not with actin cytoskeleton, in sensory neurons.
Isoform 8: Cytoskeleton; Cell membrane; Cell cortex

Neuropathy, hereditary sensory and autonomic, 6 (HSAN6):
A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN6 is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection.
Epidermolysis bullosa simplex, autosomal recessive 2 (EBSB2):
A form of epidermolysis bullosa, a dermatologic disorder characterized by localized blistering on the dorsal, lateral and plantar surfaces of the feet. EBSB2 is characterized by trauma-induced blistering mainly occurring on the feet and ankles. Ultrastructural analysis of skin biopsy shows abnormal hemidesmosomes with poorly formed inner plaques.