DCTN5

Chr 16

dynactin subunit 5

NCBI Gene: 84516 ENSG00000166847 UniProt: Q9BTE1

This gene encodes a subunit of the dynactin complex that activates dynein for transport along microtubules, with the protein serving as a component of the pointed-end subcomplex that binds membranous cargo. Mutations cause autosomal recessive spastic paraplegia-78, a neurological disorder affecting motor function. The gene shows tolerance to loss-of-function variation (low pLI score), consistent with the recessive inheritance pattern observed in affected individuals.

ResearchSummary from RefSeq, UniProt

This gene encodes a subunit of dynactin, a component of the cytoplasmic dynein motor machinery involved in minus-end-directed transport. The encoded protein is a component of the pointed-end subcomplex and is thought to bind membranous cargo. A pseudogene of this gene is located on the long arm of chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.00

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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