GTPBP6
{{Short description|Protein-coding gene in humans}}
{{Infobox_gene}}
GTP binding protein 6 also known as GTPBP6 is a protein which in humans is encoded by the pseudoautosomal GTPBP6 gene.{{cite journal |vauthors=Gianfrancesco F, Esposito T, Montanini L, Ciccodicola A, Mumm S, Mazzarella R, Rao E, Giglio S, Rappold G, Forabosco A | title = A novel pseudoautosomal gene encoding a putative GTP-binding protein resides in the vicinity of the Xp/Yp telomere | journal = Hum. Mol. Genet. | volume = 7 | issue = 3 | pages = 407–14 |date=March 1998 | pmid = 9466997 | doi = 10.1093/hmg/7.3.407 | doi-access = free }}
Clinical significance
Overexpression of GTPBP6 as a result of Klinefelter's syndrome (one or more extra X-chromosomes) is inversely correlated with verbal ability.{{cite journal |vauthors=Vawter MP, Harvey PD, DeLisi LE | title = Dysregulation of X-Linked Gene Expression in Klinefelter's Syndrome and Association With Verbal Cognition | journal = Am. J. Med. Genet. B Neuropsychiatr. Genet. | volume = 144B | issue = 6 | pages = 728–34 |date=September 2007 | pmid = 17347996 | pmc = 2094046 | doi = 10.1002/ajmg.b.30454 }}
References
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Further reading
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- {{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 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8 }}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899 |pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
- {{cite journal |vauthors=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, etal |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 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3 }}
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