DEFB126

DEFB126
Identifikatori
Aliasi	DEFB126
Vanjski ID-jevi	HomoloGene: 49954 GeneCards: DEFB126
Lokacija gena (čovjek)
Hrom.	Hromosom 20 (čovjek)
Kraj	145,751 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ortolozi
	81623
	n/a
	ENSG00000125788
	n/a
	Q9BYW3
	n/a
	NM_030931
	n/a
	NP_112193
	n/a
	Wikipodaci
Pogledaj/uredi – čovjek

Beta-defenzin 126 je protein koji je kod ljudi kodiran genom DEFB126.^[3]^[4]

Funkcija

Defenzini su cisteinskim kationima bogati polipeptidi koji su važni u imunski odgovor na invaziju mikroorganizama. Protein kodiran ovim genom se luči i član je porodice beta-defenzinskih proteina. Geni beta-defensina nalaze se u nekoliko klastera u čitavom genomu, s tim da se ovaj gen preslikava na klaster u 20p13. Kodirani protein je vrlo sličan epididimisno specifičnom sekretornom proteinu (ESP13.2) kod Maqaca cynomolgus (makak majmun koji jede rakove).^[4]

Sugerira se da uobičajena varijacija gena DEFB126 generira abnormalnu iRNK i može donekle oslabiti plodnost.^[5]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000125788 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ, Casavant TL, McCray PB (Feb 2002). "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. doi:10.1073/pnas.042692699. PMC 122330. PMID 11854508.
^ ^a ^b "Entrez Gene: DEFB126 defensin, beta 126".
^ 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. PMC 3736313. PMID 21775668. Sažetak – NY Times.

Dopunska literatura

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. PMID 12620395.
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. PMID 10491631.
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. PMID 9373149.
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. PMID 8125298.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000125788 - Ensembl, maj 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid11854508-3] Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ, Casavant TL, McCray PB (Feb 2002). "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. doi:10.1073/pnas.042692699. PMC 122330. PMID 11854508.

[entrez-4] "Entrez Gene: DEFB126 defensin, beta 126".

[Tollner_2011-5] 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. PMC 3736313. PMID 21775668. Sažetak – NY Times.

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