PNPO
genyn codio-protien yn y rhywogaeth Homo sapiens
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]
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Dynodwyr | |||||||||||||||||
Cyfenwau | PNPO, HEL-S-302, PDXPO, pyridoxamine 5'-phosphate oxidase | ||||||||||||||||
Dynodwyr allanol | OMIM: 603287 HomoloGene: 5364 GeneCards: PNPO | ||||||||||||||||
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Orthologau | |||||||||||||||||
Species | Bod dynol | Llygoden | |||||||||||||||
Entrez |
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Ensembl |
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UniProt |
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RefSeq (mRNA) |
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RefSeq (protein) |
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Lleoliad (UCSC) | n/a | n/a | |||||||||||||||
PubMed search | [1] | n/a | |||||||||||||||
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Cyfystyron golygu
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 golygu
- "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.