PDXK Antibody

1. The affected pyridoxine metabolism is discussed as an inborn genetic trait in epilepsy in general, rather than a specific sign of pyridoxine-dependent epilepsy solely. PMID: 22647618
2. The pyridoxal kinase showed decreased levels and was highly carbonylated in the gene-on mice PMID: 20639122
3. This study identified a DNA variant (rs2010795) in PDXK associated with an increased risk of PD in the German cohort This association was confirmed in the British and Italian cohorts individually and reached a combined value. PMID: 20035503
4. Pyridoxal kinase expression was compared in fetal Down syndrome (DS) brain and controls; PDXK levels were found to be similar. PMID: 15082224
5. A promoter mutation with potential erythroid-specific properties that could be the basis of a novel mechanism of controlling cell-specific decreased activity of an essential enzyme in erythrocytes. PMID: 16704963
6. The crystal structure of the MgATP complex also reveals Mg(2+) and Na(+) acting in tandem to anchor the ATP at the active site of pyridoxal kinase. PMID: 17766369
7. These results document the role of Asp235 in PL kinase activity. PMID: 19351586

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HGNC: 8819

OMIM: 179020

KEGG: hsa:8566

STRING: 9606.ENSP00000291565

UniGene: Hs.284491