GTPBP6

GTPBP6
Identifiers
Aliases	GTPBP6, PGPL, GTP binding protein 6 (putative)
External IDs	MGI: 1306825 HomoloGene: 8157 GeneCards: GTPBP6
Gene location (Human)
Chr.	X chromosome (human)[1]
End	318,819 bp[1]
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)[2]
End	110,108,197 bp[2]
Orthologs
	8225
	107999
	ENSG00000178605
	ENSMUSG00000033434
	O43824
	Q3U6U5
	NM_012227
	NM_145147
	NP_036359
	NP_660129
	Wikidata
View/Edit Human	View/Edit Mouse

GTP binding protein 6 also known as GTPBP6 is a protein which in humans is encoded by the pseudoautosomal GTPBP6 gene.^[5]

Clinical significance

Overexpression of GTPBP6 as a result of Klinefelter's syndrome (one or more extra X-chromosomes) is inversely correlated with verbal ability.^[6]

1 2 3 GRCh38: Ensembl release 89: ENSG00000178605 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000033434 - Ensembl, May 2017
↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ Gianfrancesco F, Esposito T, Montanini L, Ciccodicola A, Mumm S, Mazzarella R, Rao E, Giglio S, Rappold G, Forabosco A (March 1998). "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. doi:10.1093/hmg/7.3.407. PMID 9466997.
↑ Vawter MP, Harvey PD, DeLisi LE (September 2007). "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. doi:10.1002/ajmg.b.30454. PMC 2094046. PMID 17347996.

Maruyama K, Sugano S (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.
Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (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.

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