EMC1

Chr 1

ER membrane protein complex subunit 1

Also known as: CAVIPMR, KIAA0090

NCBI Gene: 23065 ENSG00000127463 UniProt: Q8N766

This protein is a component of the endoplasmic reticulum membrane protein complex (EMC) that facilitates the insertion of newly synthesized membrane proteins into ER membranes, particularly those with weakly hydrophobic transmembrane domains. Biallelic mutations cause autosomal recessive cerebellar atrophy with visual impairment and psychomotor retardation. The gene shows no loss-of-function intolerance (pLI near zero), consistent with the recessive inheritance pattern.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a single-pass type I transmembrane protein, which is a subunit of the endoplasmic reticulum membrane protein complex (EMC). Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2012]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCerebellar atrophy, visual impairment, and psychomotor retardation

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder with motor features · ARModerateconsider for supplementary testing2 gene-disease associations curated in total

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.01

LOEUF

Multiple*

Mechanism· G2P

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GeneReview available — EMC1