GTPBP6

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GTP binding protein 6 (putative)
Identifiers
Symbols GTPBP6 ; PGPL
External IDs OMIM300124 MGI1306825 HomoloGene8157 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:
0.22 – 0.23 Mb
Chr 5:
110.1 – 110.11 Mb
PubMed search [1] [2]

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

Clinical significance[edit]

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

References[edit]

  1. ^ 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. 
  2. ^ 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[edit]