NUP54

Chr 4

nucleoporin 54

NUP54 encodes a nucleoporin that is a component of the nuclear pore complex required for trafficking of molecules across the nuclear membrane. Mutations cause autosomal recessive dystonia 37, an early-onset dystonia with striatal lesions. The gene shows high constraint against loss-of-function variants (LOEUF 0.454), suggesting intolerance to reduced protein levels.

ResearchSummary from RefSeq, OMIM, UniProt

Component of the nuclear pore complex, a complex required for the trafficking across the nuclear membrane

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDystonia 37, early-onset, with striatal lesions

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.45

LOEUF

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Mechanism

Some data sources returned errors (2)

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