RER1

Chr 1

retention in endoplasmic reticulum sorting receptor 1

NCBI Gene: 11079 ENSG00000157916 UniProt: O15258 OMIM: 620048

The protein localizes to the Golgi apparatus and retrieves endoplasmic reticulum membrane proteins from the early Golgi compartment, facilitating gamma-secretase complex assembly. Mutations cause autosomal recessive neurodevelopmental disorder with epilepsy and brain atrophy, typically presenting in infancy or early childhood. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.58), and the disorder primarily affects the central nervous system with seizures and developmental delays as prominent features.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a multi-pass membrane protein that is localized to the golgi apparatus. It is involved in the retention of endoplasmic reticulum (ER) membrane proteins in the ER and retrieval of ER membrane proteins from the early Golgi compartment to facilitate gamma-secretase complex assembly. [provided by RefSeq, Oct 2009]

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)

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P/LP submissions

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P/LP missense

0.58

LOEUF

Mechanism· predicted