DCTN1

DCTN1

A gene on chromosome 2p13 that encodes dynactin-1 (the largest subunit of dynactin), a macromolecular complex that binds to both microtubules and cytoplasmic dynein and effect an array of motor activities, including ER-to-Golgi transport, centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning and axonogenesis.
 
Molecular pathology
DCTN1 mutations cause distal hereditary motor neuronopathy type VIIB (HMN7B).
References in periodicals archive ?
Upon studying the eight families with Perry syndrome, the Mayo-led team found that each family had one of five novel mutations in the DCTN1 gene, whose protein produces a large subunit of the dynactin complex known as p150glued.
The researchers were surprised to see the similarities between Perry syndrome and other neurodegenerative diseases, and noted that Perry mutations in DCTN1 were physically very close to a mutation previously reported in familial motor neuron disease.