EMC6

Chr 17

ER membrane protein complex subunit 6

Also known as: RAB5IFL, TMEM93

NCBI Gene: 83460 ENSG00000127774 UniProt: Q9BV81

EMC6 encodes a component of the endoplasmic reticulum membrane protein complex that facilitates insertion of newly synthesized membrane proteins into ER membranes, particularly those with weakly hydrophobic transmembrane domains. Mutations cause autosomal recessive neurodevelopmental disorder with epilepsy and microcephaly, with affected children typically presenting in infancy with developmental delays, seizures, and growth abnormalities. The gene shows intermediate constraint against loss-of-function mutations (pLI 0.52, LOEUF 1.29), consistent with recessive inheritance.

ResearchSummary from RefSeq, UniProt

Contributes to membrane insertase activity. Involved in autophagosome assembly; protein insertion into ER membrane by stop-transfer membrane-anchor sequence; and tail-anchored membrane protein insertion into ER membrane. Located in endoplasmic reticulum membrane and omegasome membrane. Part of EMC complex. [provided by Alliance of Genome Resources, Jul 2025]

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

1.29

LOEUF

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Mechanism

Some data sources returned errors (1)

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