The peptides encoded by these genes are potent antimicrobial agents, especially effective against clinically important pathogens, such as Pseudomonas aeruginosa and Staphylococcus aureus.
A copy number polymorphism involving these genes, which is reflected in mRNA expression levels, is likely to have important consequences for immune system function. A cluster of at least three antimicrobial beta-defensin genes (DEFB4, DEFB103, and DEFB104) at 8p23.1 are polymorphic in copy number (12916016).
DEFB4 has been shown to act as a cytokine linking the innate and adaptive immune responses.
Members
DEFAs | DEFA1 | DEFA2 | DEFA3 | DEFA4 | DEFA5 | DEFA6 |
DEFBs | DEFB103 | DEFB104 |
References
Rodriguez de la Vega RC, Possani LD. On the evolution of invertebrate defensins. Trends Genet. 2005 Jun;21(6):330-2. PMID: 15922831
Selsted ME, Ouellette AJ. Defensins in granules of phagocytic and non-phagocytic cells. Trends Cell Biol. 1995 Mar;5(3):114-9. PMID: 14732166