PDXK
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 of which are involved in amino acid metabolism, neurotransmitter synthesis, and energy production. Variants in the PDXK gene may impair this conversion, potentially leading to a functional vitamin B6 deficiency even if B6 intake is adequate. Disruption in PLP levels has been associated with neurological symptoms, fatigue, and mood disturbances.
Description
It produces pyridoxal kinase, an enzyme responsible for converting vitamin B6 into its active form, PLP.
PLP functions as a coenzyme in numerous vital processes, including neurotransmitter synthesis, amino acid metabolism, and energy pathways.
Impaired conversion of B6 to PLP may lead to symptoms of B6 deficiency, such as low mood, fatigue, or neurological problems.
Yes, if PDXK function is impaired due to genetic variants, B6 may not be efficiently converted into PLP despite sufficient dietary intake.
