SERPINB1

Chr 6

serpin family B member 1

Also known as: EI, ELANH2, HEL-S-27, HEL57, LEI, M/NEI, MNEI, PI-2

NCBI Gene: 1992 ENSG00000021355 UniProt: P30740 OMIM: 130135

The protein functions as a neutrophil serine protease inhibitor that regulates innate immune response and inflammation by inhibiting neutrophil elastase, cathepsin G, proteinase-3, and inflammatory caspases to protect tissues from damage during infection and stress. Mutations cause severe congenital neutropenia with recurrent infections, typically presenting in infancy. This gene shows low constraint to loss-of-function variants and follows an autosomal recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the serpin family of proteinase inhibitors. Members of this family maintain homeostasis by neutralizing overexpressed proteinase activity through their function as suicide substrates. This protein inhibits the neutrophil-derived proteinases neutrophil elastase, cathepsin G, and proteinase-3 and thus protects tissues from damage at inflammatory sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.49

LOEUF

Mechanism· predicted