EMC10

Chr 19AR

ER membrane protein complex subunit 10

Also known as: C19orf63, HSM1, HSS1, NEDDFAS

NCBI Gene: 284361 ENSG00000161671 UniProt: Q5UCC4 OMIM: 614545

EMC10 is part of the endoplasmic reticulum membrane protein complex that enables insertion of newly synthesized membrane proteins into ER membranes, particularly those with weakly hydrophobic transmembrane domains. Biallelic mutations cause autosomal recessive neurodevelopmental disorder with dysmorphic facies and variable seizures. The gene shows very low constraint against loss-of-function variants (extremely low pLI), which is consistent with the recessive inheritance pattern observed clinically.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

Contributes to membrane insertase activity. Involved in positive regulation of angiogenesis; positive regulation of endothelial cell proliferation; and protein insertion into ER membrane. Located in endoplasmic reticulum membrane and extracellular region. Part of EMC complex. [provided by Alliance of Genome Resources, Jul 2025]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with dysmorphic facies and variable seizuresMIM #619264

Clinical highlights

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

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P/LP missense

1.60

LOEUF

LOF

Mechanism· G2P

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GeneReview available — EMC10