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 Ovarian Endometrioid Stromal Sarcoma. Among its related pathways are Innate Immune System and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and pyridoxal phosphate binding.
UniProtKB/Swiss-Prot Summary for PDXK Gene
Required for synthesis of pyridoxal-5-phosphate from vitamin B6.