Pyridoxal kinase (PDXK) converts vitamin B6 to pyridoxal-5-phosphate (PLP), an essential cofactor in the intermediate metabolism of amino acids and neurotransmitters. The PDXK gene encodes a 312-amino acid polypeptide, and expression of the cDNA reveals pyridoxal kinase activity. Northern blot analysis revealed that a major 1.5-kb PDXK transcript is expressed in all tissues tested. The expression of PDXK shows circadian oscillations. The expression of Pdxk in mouse liver and brain is regulated by the 3 PAR bZIP transcription factors, Dbp, Hlf, and Tef, which also show circadian oscillations in expression. Mice devoid of all 3 transcription factors show decreased levels of brain PLP, serotonin, and dopamine, and are highly susceptible to frequently lethal generalized spontaneous and audiogenic epilepsies.
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Protein Aliases: epididymis secretory sperm binding protein Li 1a; Pyridoxal kinase; pyridoxamine kinase; Pyridoxine kinase; vitamin B6 kinase
Gene Aliases: C21orf124; C21orf97; HEL-S-1a; PDXK; PKH; PNK; PRED79
UniProt ID: (Human) O00764
Entrez Gene ID: (Human) 8566