The PDXK gene encodes the enzyme pyridoxal kinase, which is crucial for converting vitamin B6 into its active form, pyridoxal-5′-phosphate (PLP). PLP acts as a coenzyme in over 100 enzymatic reactions, many involved in amino acid metabolism, neurotransmitter synthesis, and energy production. Variants in the PDXK gene may disrupt this conversion, potentially causing a functional vitamin B6 deficiency despite adequate B6 intake. Altered PLP levels have been associated with neurological symptoms, fatigue, and mood disorders.
It produces pyridoxal kinase, an enzyme that activates vitamin B6 into its active form, PLP.
PLP functions as a coenzyme in numerous essential processes, including neurotransmitter synthesis, amino acid metabolism, and energy production pathways.
Impaired conversion of B6 to PLP can lead to symptoms of B6 deficiency, including low mood, fatigue, or neurological problems.
Yes, if the PDXK function is impaired due to genetic variants, vitamin B6 may not be effectively converted into PLP even with sufficient dietary intake.