GTPBP6 explained

GTP binding protein 6 also known as GTPBP6 is a protein which in humans is encoded by the pseudoautosomal GTPBP6 gene.^[1]

Clinical significance

Overexpression of GTPBP6 as a result of Klinefelter's syndrome (one or more extra X-chromosomes) is inversely correlated with verbal ability.^[2]

Further reading

• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides . Gene . 138 . 1–2 . 171–4 . 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2002 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, etal . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–56 . 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 .

Notes and References

1. Gianfrancesco F, Esposito T, Montanini L, Ciccodicola A, Mumm S, Mazzarella R, Rao E, Giglio S, Rappold G, Forabosco A . A novel pseudoautosomal gene encoding a putative GTP-binding protein resides in the vicinity of the Xp/Yp telomere . Hum. Mol. Genet. . 7 . 3 . 407–14 . March 1998 . 9466997 . 10.1093/hmg/7.3.407 . free .
2. Vawter MP, Harvey PD, DeLisi LE . Dysregulation of X-Linked Gene Expression in Klinefelter's Syndrome and Association With Verbal Cognition . Am. J. Med. Genet. B Neuropsychiatr. Genet. . 144B . 6 . 728–34 . September 2007 . 17347996 . 2094046 . 10.1002/ajmg.b.30454 .