Biology:DEFB104A

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

Beta-defensin 104 is a protein that in humans is encoded by the DEFB104A gene.

Function

Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104A, represents the more centromeric copy.

Further reading

• "Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract". Physiological Genomics 23 (1): 5–17. September 2005. doi:10.1152/physiolgenomics.00104.2005. PMID 16033865. 
• "Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations". Genomics 85 (5): 574–81. May 2005. doi:10.1016/j.ygeno.2005.02.003. PMID 15820309. 
• "Evidence for duplication of the human defensin gene DEFB4 in chromosomal region 8p22-23 and implications for the analysis of SNP allele distribution". Genetic Testing 8 (3): 325–7. 2005. doi:10.1089/gte.2004.8.325. PMID 15727258. 
• "Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence". BMC Genomics 5 (1): 92. December 2004. doi:10.1186/1471-2164-5-92. PMID 15588320. 
• "Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster". American Journal of Human Genetics 73 (3): 591–600. September 2003. doi:10.1086/378157. PMID 12916016. 
• "Duplication and selection in the evolution of primate beta-defensin genes". Genome Biology 4 (5): R31. 2003. doi:10.1186/gb-2003-4-5-r31. PMID 12734011. 
• "Identification of multiple novel epididymis-specific beta-defensin isoforms in humans and mice". Journal of Immunology 169 (5): 2516–23. September 2002. doi:10.4049/jimmunol.169.5.2516. PMID 12193721. 
• "Discovery of five conserved beta -defensin gene clusters using a computational search strategy". Proceedings of the National Academy of Sciences of the United States of America 99 (4): 2129–33. February 2002. doi:10.1073/pnas.042692699. PMID 11854508. 
• "Human beta-defensin 4: a novel inducible peptide with a specific salt-sensitive spectrum of antimicrobial activity". FASEB Journal 15 (10): 1819–21. August 2001. doi:10.1096/fj.00-0865fje. PMID 11481241.