[[Defensin]]s are [[cysteine]]-rich cationic [[peptide|polypeptides]] that are important in the [[Immune system|immunologic response]] to invading microorganisms. The protein encoded by this gene is secreted and is a member of the [[beta defensin]] protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. The encoded protein is highly similar to an [[epididymis|epididymal]]-specific secretory protein (ESP13.2) from [[crab-eating macaque|cynomolgus monkey]].<ref name="entrez" />
[[Defensin]]s are [[cysteine]]-rich cationic [[peptide|polypeptides]] that are important in the [[Immune system|immunologic response]] to invading microorganisms. The protein encoded by this gene is secreted and is a member of the [[beta defensin]] protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. The encoded protein is highly similar to an [[epididymis|epididymal]]-specific secretory protein (ESP13.2) from [[crab-eating macaque|cynomolgus monkey]].<ref name="entrez" />
It has been suggested that a common variation in the DEFB126 gene generates abnormal mRNA and can somewhat impair fertility.<ref name = "Tollner_2011">{{cite journal | vauthors = Tollner TL, Venners SA, Hollox EJ, Yudin AI, Liu X, Tang G, Xing H, Kays RJ, Lau T, Overstreet JW, Xu X, Bevins CL, Cherr GN | title = A common mutation in the defensin DEFB126 causes impaired sperm function and subfertility | journal = Science Translational Medicine | volume = 3 | issue = 92 | pages = 92ra65 | date = Jul 2011 | pmid = 21775668 | doi = 10.1126/scitranslmed.3002289 | laysummary = https://www.nytimes.com/2011/07/21/us/21fertility.html | laysource = NY Times }}</ref>
It has been suggested that a common variation in the DEFB126 gene generates abnormal mRNA and can somewhat impair fertility.<ref name = "Tollner_2011">{{cite journal | vauthors = Tollner TL, Venners SA, Hollox EJ, Yudin AI, Liu X, Tang G, Xing H, Kays RJ, Lau T, Overstreet JW, Xu X, Bevins CL, Cherr GN | title = A common mutation in the defensin DEFB126 causes impaired sperm function and subfertility | journal = Science Translational Medicine | volume = 3 | issue = 92 | pages = 92ra65 | date = Jul 2011 | pmid = 21775668 | doi = 10.1126/scitranslmed.3002289 | laysummary = https://www.nytimes.com/2011/07/21/us/21fertility.html | laysource = NY Times | pmc = 3736313 }}</ref>
Beta-defensin 126 is a protein that in humans is encoded by the DEFB126gene.[1][2]
Function
Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. The encoded protein is highly similar to an epididymal-specific secretory protein (ESP13.2) from cynomolgus monkey.[2]
It has been suggested that a common variation in the DEFB126 gene generates abnormal mRNA and can somewhat impair fertility.[3]
Rodríguez-Jiménez FJ, Krause A, Schulz S, Forssmann WG, Conejo-Garcia JR, Schreeb R, Motzkus D (Feb 2003). "Distribution of new human beta-defensin genes clustered on chromosome 20 in functionally different segments of epididymis". Genomics. 81 (2): 175–83. doi:10.1016/S0888-7543(02)00034-4. PMID12620395.
Perry AC, Jones R, Moisyadi S, Coadwell J, Hall L (Oct 1999). "The novel epididymal secretory protein ESP13.2 in Macaca fascicularis". Biology of Reproduction. 61 (4): 965–72. doi:10.1095/biolreprod61.4.965. PMID10491631.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID9373149.
Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID8125298.
