DCTN1

This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 23 subunits (11 individual proteins ranging in size from 22 to 150 kD).[6] Dynactin binds to cytoplasmic dynein, dynein cargo adaptors, and microtubules.[7] It 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 is commonly referred to p150-glued.[5] It is present in two copies per dynactin complex and forms an ≈75 nm long flexible arm that extends from the main body of dynactin.[6] The p150-glued arm contains binding sites for microtubules,[8] the microtubule plus tip binding protein EB1,[9] and the N-terminus of the dynein intermediate chain.[10][11]

Alternative splicing of this gene results in at least 2 functionally distinct isoforms: a ubiquitously expressed one and a brain-specific one. Based on its cytogenetic location, this gene is considered as a candidate gene for limb-girdle muscular dystrophy.[12]

DCTN1 has been shown to interact with:

• BBS4,[13]
• Dystonin,[14]
• Grb2,[15] and
• RAB6A.[16]

• GeneReviews/NIH/NCBI/UW entry on Perry syndrome