DEFB1

Chr 8

defensin beta 1

Also known as: BD1, DEFB-1, DEFB101, HBD1

NCBI Gene: 1672 ENSG00000164825 UniProt: P60022 OMIM: 602056

The DEFB1 protein is an antimicrobial peptide that provides bactericidal activity and helps protect epithelial surfaces from microbial colonization, while also functioning as a ligand for chemokine receptor CCR6. Mutations in this gene have been implicated in cystic fibrosis pathogenesis, though the specific inheritance pattern and clinical manifestations of primary DEFB1 deficiency require further characterization. This gene shows moderate tolerance to loss-of-function variants (LOEUF 1.689), suggesting some functional redundancy in antimicrobial defense pathways.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 1, an antimicrobial peptide implicated in the resistance of epithelial surfaces to microbial colonization. This gene maps in close proximity to defensin family member, defensin, alpha 1 and has been implicated in the pathogenesis of cystic fibrosis. [provided by RefSeq, Jul 2008]

GeneReviews OMIM 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)

—

P/LP submissions

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P/LP missense

1.69

LOEUF

Mechanism· predicted

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GeneReview available — DEFB1

Authoritative clinical overview · Recommended first read