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DEFB1

MIM.602056 8p23.2-p23.1

The production of antimicrobial peptides by eukaryotic cells has been demonstrated in plants, invertebrates, and vertebrates, suggesting that it is a widespread and ancient means of host defense.

In mammals, 2 seemingly distinct families of 3.5- to 5-kD cysteine- and arginine-rich antimicrobial peptides have been identified: alpha-defensins, found in phagocytes of human and other mammals and in Paneth cells of the small intestine of the human, mouse, and rat; and beta-defensins, located in bovine (and avian) phagocytes and bovine lingual and tracheal epithelia.

The human beta-defensin HBD1 is an antimicrobial peptide implicated in the resistance of epithelial surfaces to microbial colonization. DEFB1 appears to be involved in the antimicrobial defense of epithelia of surfaces such as those of the respiratory tract, urinary tract, and vagina.

Pathology

Human beta-defensin-1 (hBD-1) is a candidate tumor suppressor gene located on chromosome 8p23.

Cancer-specific loss of hBD-1 has been found in 90% of renal clear cell carcinomas and in 82% of prostate cancers.

hBD-1 is a potential tumor suppressor gene for urological cancers. Promoter point mutations may be responsible for cancer-specific loss of hDB-1 expression. (16951166)

References

- Sun CQ, Arnold R, Fernandez-Golarz C, Parrish AB, Almekinder T, He J, Ho SM, Svoboda P, Pohl J, Marshall FF, Petros JA. Human beta-Defensin-1, a Potential Chromosome 8p Tumor Suppressor: Control of Transcription and Induction of Apoptosis in Renal Cell Carcinoma. Cancer Res. 2006 Sep 1;66(17):8542-9. PMID: 16951166