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).