DCTN3

Chr 9

dynactin subunit 3

Also known as: DCTN-22, DCTN22

NCBI Gene: 11258 ENSG00000137100 UniProt: O75935

The protein is the smallest subunit of the dynactin complex, which activates the molecular motor dynein for transport along microtubules and is involved in diverse cellular functions including ER-to-Golgi transport, organelle movement, spindle formation, and axonogenesis. Mutations cause autosomal recessive spinal muscular atrophy with congenital bone fractures, a severe neuromuscular disorder affecting the spinal cord and skeletal system from birth. This gene shows extremely low constraint against loss-of-function variants (pLI near zero), indicating tolerance to such mutations in the general population.

ResearchSummary from RefSeq, UniProt

This gene encodes the smallest 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. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, cytokinesis, chromosome movement, nuclear positioning, and axonogenesis. This subunit, like most other dynactin subunits, exists only as a part of the dynactin complex. It is primarily an alpha-helical protein with very little coiled coil, and binds directly to the largest subunit (p150) of dynactin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.54

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)