CSE1L

Chr 20

chromosome segregation 1 like

Also known as: CAS, CSE1, XPO2

NCBI Gene: 1434 ENSG00000124207 UniProt: P55060

The CSE1L protein functions as an export receptor that mediates the transport of importin-alpha from the nucleus back to the cytoplasm, maintaining proper nuclear-cytoplasmic transport cycles essential for cellular function. Mutations in CSE1L cause autosomal dominant developmental delay, seizures, and hypotonia, typically presenting in infancy or early childhood. This gene is highly constrained against loss-of-function variants in the general population, indicating that CSE1L function is critical for normal human development.

ResearchSummary from RefSeq, UniProt

Proteins that carry a nuclear localization signal (NLS) are transported into the nucleus by the importin-alpha/beta heterodimer. Importin-alpha binds the NLS, while importin-beta mediates translocation through the nuclear pore complex. After translocation, RanGTP binds importin-beta and displaces importin-alpha. Importin-alpha must then be returned to the cytoplasm, leaving the NLS protein behind. The protein encoded by this gene binds strongly to NLS-free importin-alpha, and this binding is released in the cytoplasm by the combined action of RANBP1 and RANGAP1. In addition, the encoded protein may play a role both in apoptosis and in cell proliferation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]

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

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