DGUOK

DGUOK
Strwythurau
PDBHuman UniProt search: PDBe RCSB
Dynodwyr
CyfenwauDGUOK, deoxyguanosine kinase, MTDPS3, dGK, NCPH, PEOB4, NCPH1
Dynodwyr allanolOMIM: 601465 HomoloGene: 8456 GeneCards: DGUOK
EC number2.7.1.76 2.7.1.113, 2.7.1.76
Patrwm RNA pattern


Rhagor o gyfeiriadau
Orthologau
SpeciesBod dynolLlygoden
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

RefSeq (protein)

n/a

Lleoliad (UCSC)n/an/a
PubMed search[1]n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn DGUOK yw DGUOK a elwir hefyd yn Deoxyguanosine kinase (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 2, band 2p13.1.[2]

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn DGUOK.

  • dGK
  • NCPH
  • PEOB4
  • MTDPS3

Llyfryddiaeth

  • "[Clinical features and DGUOK mutations of an infant with mitochondrial DNA depletion syndrome]. ". Zhongguo Dang Dai Er Ke Za Zhi. 2016. PMID 27324545.
  • "Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension. ". Hepatology. 2016. PMID 26874653.
  • "Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. ". Brain. 2012. PMID 23043144.
  • "Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure. ". J Appl Genet. 2011. PMID 21107780.
  • Deoxyguanosine Kinase Deficiency. 1993. PMID 20301766.

Cyfeiriadau

  1. "Human PubMed Reference:".
  2. DGUOK - Cronfa NCBI

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