DEFB126
{{Short description|Protein-coding gene in humans}}
{{Infobox_gene}}
Beta-defensin 126 is a protein that in humans is encoded by the DEFB126 gene.{{cite journal | vauthors = Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ, Casavant TL, McCray PB | title = Discovery of five conserved beta -defensin gene clusters using a computational search strategy | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 99 | issue = 4 | pages = 2129–33 | date = Feb 2002 | pmid = 11854508 | pmc = 122330 | doi = 10.1073/pnas.042692699 | bibcode = 2002PNAS...99.2129S | doi-access = free }}{{cite web | title = Entrez Gene: DEFB126 defensin, beta 126| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=81623}}
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.
It has been suggested that a common variation in the DEFB126 gene generates abnormal mRNA and can somewhat impair fertility.{{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| pmc = 3736313 }}
- {{cite news |author=Pam Belluck |date=July 20, 2011 |title=Study Links Male Infertility to a Missing Protein |newspaper=The New York Times |url=https://www.nytimes.com/2011/07/21/us/21fertility.html |url-access=subscription}}
References
{{reflist}}
Further reading
{{refbegin | 2}}
- {{cite journal | vauthors = Rodríguez-Jiménez FJ, Krause A, Schulz S, Forssmann WG, Conejo-Garcia JR, Schreeb R, Motzkus D | title = Distribution of new human beta-defensin genes clustered on chromosome 20 in functionally different segments of epididymis | journal = Genomics | volume = 81 | issue = 2 | pages = 175–83 | date = Feb 2003 | pmid = 12620395 | doi = 10.1016/S0888-7543(02)00034-4 }}
- {{cite journal | vauthors = Perry AC, Jones R, Moisyadi S, Coadwell J, Hall L | title = The novel epididymal secretory protein ESP13.2 in Macaca fascicularis | journal = Biology of Reproduction | volume = 61 | issue = 4 | pages = 965–72 | date = Oct 1999 | pmid = 10491631 | doi = 10.1095/biolreprod61.4.965 | doi-access = free }}
- {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1–2 | pages = 149–56 | date = Oct 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
- {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1–2 | pages = 171–4 | date = Jan 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
{{refend}}
{{gene-20-stub}}