PDXK
The PDXK gene codes for 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 processes, many of which play roles in amino acid metabolism, neurotransmitter production, and energy generation. Variations in the PDXK gene can disrupt this conversion, potentially causing a functional vitamin B6 deficiency even when vitamin B6 intake is adequate. Altered PLP levels have been associated with neurological symptoms, fatigue, and mood changes.
Description
It produces pyridoxal kinase, an enzyme that converts vitamin B6 into its active form, PLP.
PLP functions as a coenzyme in many essential processes, including neurotransmitter production, amino acid metabolism, and energy pathways.
Impaired conversion of B6 to PLP can lead to symptoms of B6 deficiency, such as low mood, fatigue, or neurological problems.
Yes, if the function of PDXK is impaired due to genetic variants, B6 may not be effectively converted into PLP despite sufficient dietary intake.
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