DNM3

Chr 1

dynamin 3

Also known as: Dyna III

NCBI Gene: 26052 ENSG00000197959 UniProt: Q9UQ16

DNM3 encodes a GTP-binding protein that associates with microtubules and functions in vesicular trafficking processes, particularly endocytosis, and plays a role in megakaryocyte development. Mutations cause autosomal dominant developmental and epileptic encephalopathy with movement abnormalities, typically presenting in infancy with seizures, developmental delay, and dystonia. The gene is highly constrained against loss-of-function variants, indicating intolerance to protein-disrupting mutations.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of a family of guanosine triphosphate (GTP)-binding proteins that associate with microtubules and are involved in vesicular transport. The encoded protein functions in the development of megakaryocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.48

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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