SEC11C
Chr 18SEC11 homolog C, signal peptidase complex subunit
Also known as: SEC11L3, SPC21, SPCS4C
SEC11C encodes a catalytic subunit of the signal peptidase complex that cleaves N-terminal signal sequences from nascent proteins as they enter the endoplasmic reticulum, specifically targeting signal peptides with shorter hydrophobic regions. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.55), consistent with its essential role in protein processing.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
94 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 68 |
Likely Pathogenic | — | — | — | — | 3 |
VUS | — | — | — | — | 18 |
Likely Benign | — | — | — | — | 1 |
Benign | — | — | — | — | 0 |
| Total | — | 90 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SEC11C · 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
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools