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GTPBP6

From Wikipedia, the free encyclopedia

GTPBP6
Identifiers
AliasesGTPBP6, PGPL, GTP binding protein 6 (putative)
External IDsOMIM: 300124 MGI: 1306825 HomoloGene: 8157 GeneCards: GTPBP6
Orthologs
SpeciesHumanMouse
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 MbChr 5: 110.25 – 110.26 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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Transcription

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]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000178605 – Ensembl, May 2017
  2. ^ a b c 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


Stub icon

This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by expanding it.

This page was last edited on 31 July 2023, at 15:53
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