DEFB1

Description

The DEFB1 (defensin beta 1) is a protein-coding gene located on chromosome 8.

DEFB1, the human gene encoding beta-defensin 1, produces a protein that belongs to the defensin family, known for their microbicidal and cytotoxic properties. Defensins are highly similar in protein sequence. DEFB1 encodes defensin, beta 1, an antimicrobial peptide that plays a vital role in protecting epithelial surfaces from microbial colonization. It maps closely to the defensin, alpha 1 gene and has been linked to the development of cystic fibrosis. Single-nucleotide polymorphisms within the DEFB1 gene have been associated with plasma kynurenine concentrations in patients with major depressive disorder, as identified in a genome-wide association study.

DEFB1 exhibits bactericidal activity and acts as a ligand for C-C chemokine receptor CCR6. It positively regulates sperm motility and bactericidal activity in a CCR6-dependent manner. DEFB1 binds to CCR6 and triggers Ca2+ mobilization in sperm, which is crucial for its motility (PubMed:25122636).

DEFB1 is also known as BD1, DEFB-1, DEFB101, HBD1.

Associated Diseases

• immunodeficiency 28
• recurrent Neisseria infections due to factor D deficiency
• tuberculosis
• varicella, severe recurrent
• type II complement component 8 deficiency
• candidiasis, familial, 4
• mannose-binding lectin deficiency