XPO1 Chromosome 2
Exportin 1
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What This Gene Does
This cell-cycle-regulated gene encodes a protein that mediates leucine-rich nuclear export signal (NES)-dependent protein transport. The protein specifically inhibits the nuclear export of Rev and U snRNAs. It is involved in the control of several cellular processes by controlling the localization of cyclin B, MPAK, and MAPKAP kinase 2. This protein also regulates NFAT and AP-1. [provided by RefSeq, Jan 2015]
Gene Info
Gene Group
Exportins
Locus Type
gene with protein product
Location
2p15
Ensembl
ENSG00000082898
Associated Conditions (1)
XPO1-associated Neurodevelopmental Disorder
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS61761632 | Health Risk | Conflicting classifications of pathogenicity | XPO1-associated Neurodevelopmental Disorder, XPO1-associated Neurodevelopmental Disorder |