PTS (gene)

PTS (6-pyruvoyltetrahydropterin synthase) is an enzyme that in humans is encoded by the PTS gene. This enzyme is involved in the biosynthesis of tetrahydrobiopterin (BH4), which is a critical cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases. These hydroxylases are necessary for the synthesis of neurotransmitters such as serotonin, melatonin, dopamine, and norepinephrine, as well as for the production of nitric oxide.

Function[edit | edit source]

The PTS gene provides instructions for making 6-pyruvoyltetrahydropterin synthase, which plays a key role in the process of converting GTP (guanosine triphosphate) into tetrahydrobiopterin (BH4). BH4 is essential for the hydroxylation of several amino acids, including phenylalanine, tyrosine, and tryptophan. This process is crucial for the synthesis of important neurotransmitters and for the regulation of amino acid metabolism.

Clinical Significance[edit | edit source]

Mutations in the PTS gene can lead to tetrahydrobiopterin deficiency, a disorder characterized by an assortment of neurological symptoms such as intellectual disability, movement disorders, and seizures. This deficiency can also affect the metabolism of phenylalanine, leading to phenylketonuria (PKU) if not treated properly. Early diagnosis and treatment with BH4 supplements, along with a controlled diet, can improve outcomes for individuals with this condition.

Genetic[edit | edit source]

The PTS gene is located on the long (q) arm of chromosome 12 at position 22.2, more precisely at 12q22.2. The gene undergoes transcription and translation to produce the 6-pyruvoyltetrahydropterin synthase enzyme, which then participates in the complex biochemical pathways involved in neurotransmitter and nitric oxide production.