| 简介 | The protein encoded by this gene phosphorylates vitamin B6, a step required for the conversion of vitamin B6 to pyridoxal-5-phosphate, an important cofactor in intermediary metabolism. The encoded protein is cytoplasmic and probably acts as a homodimer. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Diseases associated with PDXK include Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy and Polyneuropathy. Among its related pathways are Innate Immune System and pyridoxal 5'-phosphate salvage I. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and pyridoxal phosphate binding.
Catalyzes the phosphorylation of the dietary vitamin B6 vitamers pyridoxal (PL), pyridoxine (PN) and pyridoxamine (PM) to form pyridoxal 5'-phosphate (PLP), pyridoxine 5'-phosphate (PNP) and pyridoxamine 5'-phosphate (PMP), respectively (Probable) (PubMed:10987144, 17766369, 19351586, 31187503, 9099727).
PLP is the active form of vitamin B6, and acts as a cofactor for over 140 different enzymatic reactions.
Transcriptionally regulated by Sp1 transcription factor.
Catalytic activity is inhibited competitively by 4-deoxypyridoxine, and is also inhibited by the benzodiazepine receptor ligands 1012S and ethyl-beta-carboline-3-carboxylate (PubMed:9099727).
Inhibited by ginkgotoxin, theophylline, lamotrigine, enprofylline, theobromine, and caffeine (PubMed:22879864).
Activity is increased in the presence of K(+)or Na(+) (PubMed:17766369).
pyridoxal kinase,ubiquitously expressed,repressed by ligands of the benzodiazepine receptor
Cytoplasm, cytosol {ECO:0000269 PubMed:9099727}5
Quaternary structure:
Homodimer. |
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