GTPBP6
| GTP binding protein 6 (putative) | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbols | GTPBP6 ; PGPL | ||||||||||
| External IDs | OMIM: 300124 MGI: 1306825 HomoloGene: 8157 GeneCards: GTPBP6 Gene | ||||||||||
| |||||||||||
| Orthologs | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | 8225 | 107999 | |||||||||
| Ensembl | ENSG00000178605 | ENSMUSG00000033434 | |||||||||
| UniProt | O43824 | Q3U6U5 | |||||||||
| RefSeq (mRNA) | NM_012227 | NM_145147 | |||||||||
| RefSeq (protein) | NP_036359 | NP_660129 | |||||||||
| Location (UCSC) |
Chr X: 0.3 – 0.32 Mb |
Chr 5: 110.1 – 110.11 Mb | |||||||||
| PubMed search | |||||||||||
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]
References
- ↑ 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.
Further reading
- 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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