Aliases for PDXK Gene
External Ids for PDXK Gene
Previous HGNC Symbols for PDXK Gene
Previous GeneCards Identifiers for PDXK Gene
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]
GeneCards Summary for PDXK Gene
PDXK (Pyridoxal Kinase) is a Protein Coding gene. Diseases associated with PDXK include Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy and Polyneuropathy. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Vitamin B6 metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and pyridoxal phosphate binding.
UniProtKB/Swiss-Prot Summary for PDXK Gene
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 (PubMed:9099727, PubMed:10987144, PubMed:17766369, PubMed:19351586, PubMed:31187503) (Probable). PLP is the active form of vitamin B6, and acts as a cofactor for over 140 different enzymatic reactions.