SEC13

Chr 3

SEC13 homolog, nuclear pore and COPII coat complex component

ENSG00000157020 UniProt: P55735 OMIM: 600152

The protein functions as a component of the nuclear pore complex and COPII coat, involved in the biogenesis of COPII-coated vesicles at the endoplasmic reticulum and required for protein transport from the ER. Mutations cause autosomal recessive developmental delays, seizures, and intellectual disability with onset in early childhood. The gene shows moderate constraint against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

Functions as a component of the nuclear pore complex (NPC) and the COPII coat (PubMed:8972206). At the endoplasmic reticulum, SEC13 is involved in the biogenesis of COPII-coated vesicles (PubMed:8972206). Required for the exit of adipsin (CFD/ADN), an adipocyte-secreted protein from the endoplasmic reticulum (By similarity)

OMIM 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)

—

P/LP submissions

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P/LP missense

0.61

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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