XPO7

Chr 8

exportin 7

Also known as: EXP7, RANBP16

NCBI Gene: 23039 ENSG00000130227 UniProt: Q9UIA9

XPO7 encodes exportin-7, a nuclear transport receptor that mediates the export of proteins from the nucleus to the cytoplasm by forming complexes with cargo proteins and RAN-GTP. Mutations cause autosomal dominant developmental delay with variable intellectual disability and behavioral abnormalities. This gene is highly constrained against loss-of-function variants in the general population.

ResearchSummary from RefSeq, UniProt

The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-16 is a member of the importin-beta superfamily of nuclear transport receptors.[supplied by OMIM, Jul 2002]

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

0.12

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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