XPO4

Chr 13

exportin 4

Also known as: exp4

NCBI Gene: 64328 ENSG00000132953 UniProt: Q9C0E2 OMIM: 611449

XPO4 encodes exportin-4, a nuclear transport receptor that mediates the export of specific proteins from the nucleus to the cytoplasm, including translation factor EIF5A and transcription regulators like SMAD3. Mutations cause autosomal dominant intellectual disability with microcephaly and seizures, typically presenting in early childhood. This gene is highly constrained against loss-of-function variants, indicating that proper nuclear export function is essential for normal neurodevelopment.

OMIM ResearchSummary from RefSeq, UniProt

XPO4 belongs to a large family of karyopherins (see MIM 602738) that mediate the transport of proteins and other cargo between the nuclear and cytoplasmic compartments (Lipowsky et al., 2000 [PubMed 10944119]).[supplied by OMIM, Mar 2009]

OMIM ResearchGenerating clinical summary…

LOEUF 0.14

Clinical Summary— XPO4

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

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Clinical Trials

1 active or recruiting trial — potential therapeutic options may be available

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