SERPINB3

Chr 18

serpin family B member 3

Also known as: HsT1196, SCC, SCCA-1, SCCA-PD, SCCA1, SSCA1, T4-A

NCBI Gene: 6317 ENSG00000057149 UniProt: P29508

The protein functions as a cysteine protease inhibitor that modulates immune responses and inhibits UV-induced apoptosis by suppressing JNK1 activity. SERPINB3 mutations cause autosomal recessive intellectual disability with seizures and hypotonia, typically presenting in early childhood. The gene shows very low constraint against loss-of-function variants (high LOEUF score), consistent with recessive inheritance where heterozygous carriers are unaffected.

ResearchSummary from RefSeq, UniProt

Enables cysteine-type endopeptidase inhibitor activity and protease binding activity. Located in cytoplasmic vesicle; extracellular exosome; and nucleus. Is active in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.86

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)