SEH1L

Chr 18

SEH1 like nucleoporin

Also known as: SEC13L, SEH1A, SEH1B, Seh1

NCBI Gene: 81929 ENSG00000085415 UniProt: Q96EE3

The protein is a component of the Nup107-160 subcomplex of the nuclear pore complex, required for nuclear pore assembly and proper kinetochore function during cell division. Mutations cause PHARC syndrome (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), an autosomal recessive disorder with adult onset affecting multiple neurological systems. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.507), indicating some intolerance to complete protein loss.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and shares 34% amino acid identity with yeast Seh1 and 30% identity with yeast Sec13. All constituents of the Nup107-160 complex, including this protein, specifically localize to kinetochores in mitosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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

0.51

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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