Description
Product Characteristics: FUNCTION: Required for the cytoplasmic dynein-driven retrograde movement of vesicles and organelles along microtubules. Dynein-dynactin interaction is a key component of the mechanism of axonal transport of vesicles and organelles. SUBUNIT: Large macromolecular complex of at least 10 components, p150(glued) binds directly to microtubules and to cytoplasmic dynein. Interacts with the C-terminus of MAPRE1, MAPRE2 and MAPRE3. SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton. TISSUE SPECIFICITY: Brain. DISEASE: Defects in DCTN1 are the cause of progressive lower motor neuron disease. PLMND is a progressive dominant disease that has no sensory symptoms.,Signal Transduction,DAP-150, DP-150, p150-glued,p135, Dynactin subunit 1, 150 kDa dynein-associated polypeptide
Target Information: This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. Dynactin is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit interacts with dynein intermediate chain by its domains directly binding to dynein and binds to microtubules via a highly conserved glycine-rich cytoskeleton-associated protein (CAP-Gly) domain in its N-terminus. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause distal hereditary motor neuronopathy type VIIB (HMN7B) which is also known as distal spinal and bulbar muscular atrophy (dSBMA). [provided by RefSeq, Oct 2008]