PYROXD1
Description
PYROXD1 (Pyridoxamine 5‘-Phosphate Oxidase 1) is a gene that encodes an enzyme involved in the metabolism of vitamin B6. This enzyme plays a crucial role in converting pyridoxamine 5‘-phosphate (PMP), a form of vitamin B6, to pyridoxal 5‘-phosphate (PLP), the active coenzyme form of vitamin B6. PLP is essential for a wide range of cellular processes, including amino acid metabolism, neurotransmitter synthesis, and immune function. PYROXD1 is expressed in various tissues, including the liver, brain, and immune cells, and its activity is tightly regulated to maintain optimal vitamin B6 levels.
Associated Diseases
- Vitamin B6 deficiency
- Neurological disorders (e.g., epilepsy, Parkinson‘s disease)
- Immune system dysfunction
- Cardiovascular diseases
- Cancer
Did you know?
Mutations in the PYROXD1 gene can lead to a rare genetic disorder called pyridoxine-dependent seizures, characterized by seizures that are responsive to high doses of vitamin B6.
