Humpath.com - Human pathology

Home > A. Molecular pathology > DEFs

DEFs

Monday 22 September 2003

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