GTPBP6

Last updated
GTPBP6
Identifiers
Aliases GTPBP6 , PGPL, GTP binding protein 6 (putative)
External IDs OMIM: 300124 MGI: 1306825 HomoloGene: 8157 GeneCards: GTPBP6
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_012227

NM_145147

RefSeq (protein)

NP_036359

NP_660129

Location (UCSC) Chr X: 0.3 – 0.32 Mb Chr 5: 110.25 – 110.26 Mb
PubMed search [3] [4]
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]

Contents

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]

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000178605 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000033434 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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.
  6. 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