Beta-defensin 1 is a protein that in humans is encoded by the DEFB1 gene.[5][6]
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.[6] Single-nucleotide polymorphisms in the DEFB1 gene were associated with plasma kynurenine concentrations in major depressive disorder patients in a genome-wide association study.[7]
- ^ a b c ENSG00000284881 GRCh38: Ensembl release 89: ENSG00000164825, ENSG00000284881 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000044748 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Bensch KW, Raida M, Mägert HJ, Schulz-Knappe P, Forssmann WG (July 1995). "hBD-1: a novel beta-defensin from human plasma". FEBS Letters. 368 (2): 331–5. doi:10.1016/0014-5793(95)00687-5. PMID 7628632. S2CID 84766207.
- ^ a b "Entrez Gene: DEFB1 defensin, beta 1".
- ^ Liu D, Ray B, Neavin DR, Zhang J, Athreya AP, Biernacka JM, et al. (January 2018). "Beta-defensin 1, aryl hydrocarbon receptor and plasma kynurenine in major depressive disorder: metabolomics-informed genomics". Translational Psychiatry. 8 (1): 10. doi:10.1038/s41398-017-0056-8. PMC 5802574. PMID 29317604.