GTPBP6

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GTPBP6
Identifiers
Aliases GTPBP6, PGPL, GTP binding protein 6 (putative)
External IDs MGI: 1306825 HomoloGene: 8157 GeneCards: GTPBP6
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_012227

NM_145147

RefSeq (protein)

NP_036359

NP_660129.2
NP_660129

Location (UCSC) Chr X: 0.3 – 0.32 Mb Chr 5: 110.1 – 110.11 Mb
PubMed search [1] [2]
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.[3]

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.[4]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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 2094046Freely accessible. PMID 17347996. 

Further reading[edit]