NUP50

Chr 22

nucleoporin 50

Also known as: NPAP60, NPAP60L

NCBI Gene: 10762 ENSG00000093000 UniProt: Q9UKX7

The protein functions as a nucleoporin component of the nuclear pore complex that facilitates nuclear protein import by displacing nuclear localization signals from importin-alpha and promoting importin recycling. Mutations cause autosomal recessive severe intellectual disability with microcephaly and growth retardation, typically presenting in early childhood. NUP50 shows moderate constraint against loss-of-function variants (LOEUF 0.548), suggesting some intolerance to complete protein loss.

ResearchSummary from RefSeq, UniProt

The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins that functions as a soluble cofactor in importin-alpha:beta-mediated nuclear protein import. Pseudogenes of this gene are found on chromosomes 5, 6, and 14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)

amyotrophic lateral sclerosis · ADLimitednot for standalone diagnostic reporting

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

0.55

LOEUF

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Mechanism

Some data sources returned errors (1)

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