PNPO

1NRG, 3HY8

PNPO
PNPO
Strwythurau
PDBHuman UniProt search: PDBe RCSB
Dynodwyr
CyfenwauPNPO, HEL-S-302, PDXPO, pyridoxamine 5'-phosphate oxidase
Dynodwyr allanolOMIM: 603287 HomoloGene: 5364 GeneCards: PNPO
EC number1.4.3.5
Patrwm RNA pattern
Rhagor o gyfeiriadau
Orthologau
SpeciesBod dynolLlygoden
Entrez

55163

n/a

Ensembl

ENSG00000108439

n/a

UniProt

Q9NVS9

n/a

RefSeq (mRNA)

NM_018129

n/a

RefSeq (protein)

NP_060599

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 PNPO yw PNPO a elwir hefyd yn Pyridoxamine 5'-phosphate oxidase a Pyridoxine-5'-phosphate oxidase (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 17, band 17q21.32.[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 PNPO.

  • PDXPO
  • HEL-S-302

Llyfryddiaeth

  • "It takes two to tango: defining an essential second active site in pyridoxal 5'-phosphate synthase. ". PLoS One. 2011. PMID 21283685.
  • "Molecular basis of reduced pyridoxine 5'-phosphate oxidase catalytic activity in neonatal epileptic encephalopathy disorder. ". J Biol Chem. 2009. PMID 19759001.
  • "Pyridoxal 5ꞌ-phosphate-responsive epilepsy with novel mutations in the PNPO gene: a case report. ". Genet Mol Res. 2015. PMID 26535729.
  • "Pyridoxine responsiveness in novel mutations of the PNPO gene. ". Neurology. 2014. PMID 24658933.
  • "Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.". Brain. 2014. PMID 24645144.

Cyfeiriadau

  1. ↑ "Human PubMed Reference:".
  2. ↑ PNPO - Cronfa NCBI

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