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]
↑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 (Jul 2011). "A common mutation in the defensin DEFB126 causes impaired sperm function and subfertility". Science Translational Medicine. 3 (92): 92ra65. doi:10.1126/scitranslmed.3002289. PMID21775668. Lay summary – NY Times.
Further reading
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.
