SEC11C

Chr 18

SEC11 homolog C, signal peptidase complex subunit

Also known as: SEC11L3, SPC21, SPCS4C

NCBI Gene: 90701 ENSG00000166562 UniProt: Q9BY50

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.

ResearchSummary from RefSeq, UniProt

Enables serine-type endopeptidase activity. Involved in obsolete signal peptide processing. Located in endoplasmic reticulum membrane. Part of signal peptidase complex. [provided by Alliance of Genome Resources, Jun 2026]

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

0.55

LOEUF

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Mechanism