SERPINB4

Chr 18

serpin family B member 4

Also known as: LEUPIN, PI11, SCCA-2, SCCA1, SCCA2

NCBI Gene: 6318 ENSG00000206073 UniProt: P48594 OMIM: 600518

This protein inhibits serine proteases including granzyme M, which normally kills tumor cells, and modulates immune responses. Mutations cause autosomal recessive severe dermatitis with multiple allergies and metabolic wasting (SAM syndrome), characterized by early-onset severe skin inflammation, food allergies, and failure to thrive. The gene is extremely intolerant to loss-of-function variants, indicating it is highly constrained and essential for normal development.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the serpin family of serine protease inhibitors. The encoded protein is highly expressed in many tumor cells and can inactivate granzyme M, an enzyme that kills tumor cells. This protein, along with serpin B3, can be processed into smaller fragments that aggregate to form an autoantigen in psoriasis, probably by causing chronic inflammation. [provided by RefSeq, Jan 2017]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.88

LOEUF

Mechanism· predicted