EMC1

Chr 1AR

ER membrane protein complex subunit 1

Also known as: CAVIPMR, KIAA0090

NCBI Gene: 23065 ENSG00000127463 UniProt: Q8N766 OMIM: 616846

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.

OMIM 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]

OMIM ResearchGenerating clinical summary…

MultiplemechanismARLOEUF 1.011 OMIM phenotype

Clinical Summary— EMC1

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Gene-Disease Validity (ClinGen)

complex neurodevelopmental disorder with motor features · ARModerate

Moderate evidence — consider for supplementary testing

2 total gene-disease associations curated

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.01LOEUF

pLI 0.000

Z-score 1.49

OE 0.79 (0.62–1.01)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

1.35Z-score

OE missense 0.84 (0.78–0.91)

493 obs / 585.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.79 (0.62–1.01)

0≤0.351.4

Missense OE?0.84 (0.78–0.91)

0≤0.61.4

Synonymous OE?0.87

0≤1.21.6

LoF obs/exp: 46 / 58.3Missense obs/exp: 493 / 585.0Syn Z: 1.54

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

EMC1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox

AI-powered variant curation and clinical analysis

DECIPHER

Genomic variants and phenotypes in rare disease patients

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature

Open Research Assistant →

Landmark / reviewRecent case evidence

Full-Text Mentions

NLP-detected gene mentions in article bodies · via PubTator3

PubTator3

Defective EMC1 drives abnormal retinal angiogenesis via Wnt/beta-catenin signaling and may be associated with the pathogenesis of familial exudative vitreoretinopathy

Li S et al.·Genes Dis

2022

Deletion of Emc1 in photoreceptor cells causes retinal degeneration in mice.

Li X et al.·FEBS J

2023

De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila.

Chung HL et al.·Hum Mol Genet

2022

Novel compound heterozygous variants in EMC1 associated with global developmental delay: a lesson from a non-silent synonymous exonic mutation

Wang G et al.·Front Mol Neurosci

2023

Top 4 full-text resultsSearch PubTator3 ↗

Key Publications

Landmark & review papers · by relevance

PubMed

Mechanisms Underlying Rare Inherited Pediatric Retinal Vascular Diseases: FEVR, Norrie Disease, Persistent Fetal Vascular Syndrome.

Le V et al.·Cells

2023Review

Compound heterozygous splicing variants expand the genotypic spectrum of EMC1-related disorders.

Bryen SJ et al.·Clin Genet

2023

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.

Harel T et al.·Am J Hum Genet

2016

Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment.

Cabet S et al.·Eur J Med Genet

2020Case report

A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy.

Geetha TS et al.·Mol Genet Genomic Med

2018Case report

Top 5 results · since 2015Search PubMed ↗

Recent Gene-Specific Literature

Gene in title · MEDLINE · newest first

Europe PMC

Granuloprival cerebellar cortical degeneration in a mixed breed dog with an EMC1 mutation.

Shekelle KL et al.·J Comp Pathol

2026

Establishment and characterization of NCC-EMC1-C1: a novel patient-derived cell line of extraskeletal myxoid chondrosarcoma.

Iwata S et al.·Hum Cell

2025

EMC1 Is Required for the Sarcoplasmic Reticulum and Mitochondrial Functions in the Drosophila Muscle.

Couto-Lima CA et al.·Biomolecules

2024Open Access

Emc1 is essential for vision and zebrafish photoreceptor outer segment morphogenesis.

McCann T et al.·FASEB J

2024Functional

Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1-Related Disorder.

Alzayed NT et al.·Neurol Genet

2024Open Access

Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox

AI-powered variant curation and clinical analysis

DECIPHER

Genomic variants and phenotypes in rare disease patients

EMC1

Population Genetics & Constraint

ClinVar Variant Classifications

Protein Context — Lollipop Plot

DECIPHER · Gene2Phenotype

OMIM — Genotype-Phenotype Relationships

Tissue Expression

Transcripts & Isoforms

Gene Overview

ClinGen Curation

Disease Associations

External Resources

Clinical Trials

External Resources