EMC6

Chr 17

ER membrane protein complex subunit 6

Also known as: RAB5IFL, TMEM93

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.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 1.29
Clinical SummaryEMC6
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.52) — some intolerance to loss-of-function variants.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
1.29LOEUF
pLI 0.523
Z-score 1.36
OE 0.00 (0.001.29)
Moderately constrained

Highly tolerant — LoF variants common in population

Missense Constraint
1.15Z-score
OE missense 0.60 (0.460.78)
38 obs / 63.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.001.29)
00.351.4
Missense OE0.60 (0.460.78)
00.61.4
Synonymous OE1.43
01.21.6
LoF obs/exp: 0 / 2.1Missense obs/exp: 38 / 63.8Syn Z: -1.95

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

EMC6 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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