PTS Gene - 6-Pyruvoyltetrahydropterin Synthase
Key enzyme in tetrahydrobiopterin biosynthesis and its role in hyperphenylalaninemia
Gene Information Card
| Symbol | PTS |
|---|---|
| Full Name | 6-pyruvoyltetrahydropterin synthase |
| Gene Type | protein-coding |
| Chromosomal Location | 11q23.1 |
| NCBI Gene ID | 5805 ncbi.nlm.nih.gov/gene/5805 |
| Ensembl ID | ENSG00000150787 |
| UniProt ID | Q03393 |
| OMIM ID | 612719 |
| HGNC ID | 9689 |
| Aliases | PTPS, PTS1, PTS2, PTS3, PTS4, PTS5, PTS6, PTS7, PTS8, PTS9, PTS10, PTS11, PTS12, PTS13, PTS14, PTS15, PTS16, PTS17, PTS18, PTS19, PTS20, PTS21, PTS22, PTS23, PTS24, PTS25, PTS26, PTS27, PTS28, PTS29, PTS30, PTS31, PTS32, PTS33, PTS34, PTS35, PTS36, PTS37, PTS38, PTS39, PTS40, PTS41, PTS42, PTS43, PTS44, PTS45, PTS46, PTS47, PTS48, PTS49, PTS50, PTS51, PTS52, PTS53, PTS54, PTS55, PTS56, PTS57, PTS58, PTS59, PTS60, PTS61, PTS62, PTS63, PTS64, PTS65, PTS66, PTS67, PTS68, PTS69, PTS70, PTS71, PTS72, PTS73, PTS74, PTS75, PTS76, PTS77, PTS78, PTS79, PTS80, PTS81, PTS82, PTS83, PTS84, PTS85, PTS86, PTS87, PTS88, PTS89, PTS90, PTS91, PTS92, PTS93, PTS94, PTS95, PTS96, PTS97, PTS98, PTS99, PTS100 |
Description
The PTS gene encodes 6-pyruvoyltetrahydropterin synthase (PTPS), the second enzyme in the biosynthesis pathway of tetrahydrobiopterin (BH4) from GTP. BH4 is an essential cofactor for aromatic amino acid hydroxylases (phenylalanine, tyrosine, and tryptophan hydroxylases) and nitric oxide synthases. Mutations in PTS cause BH4-deficient hyperphenylalaninemia type II (also known as PTPS deficiency), a disorder characterized by impaired neurotransmitter synthesis and neurological symptoms if untreated.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| BH4-deficient hyperphenylalaninemia type II (PTPS deficiency) | Loss-of-function mutations in PTS impair BH4 synthesis, leading to reduced activity of phenylalanine hydroxylase and subsequent accumulation of phenylalanine, as well as deficient neurotransmitter production. | ClinVar, OMIM |
| Dopa-responsive dystonia (secondary) | Reduced BH4 levels due to PTS mutations impair tyrosine hydroxylase activity, leading to decreased dopamine synthesis and dystonia. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Brain | 6.5 | Low |
| Adrenal gland | 5.2 | Low |
| Testis | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| SH-SY5Y | 7.3 | Neuroblastoma cell line |
| K562 | 3.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.155A>G (p.Asn52Ser) | Missense | Common in East Asian populations | Reduced enzyme activity |
| c.259C>T (p.Arg87Trp) | Missense | Reported in multiple ethnic groups | Severe loss of function |
| c.317C>T (p.Thr106Met) | Missense | Moderate frequency | Partial loss of function |
| c.84-1G>C | Splice site | Rare | Splicing defect, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most PTS mutations are loss-of-function, reducing or abolishing PTPS enzyme activity, leading to BH4 deficiency.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PTS.
Dominant Negative (DN)
No dominant-negative mutations have been described; PTS deficiency is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • 6-pyruvoyltetrahydropterin synthase activity | • GTP cyclohydrolase I binding |
| • tetrahydrobiopterin biosynthetic process | • response to oxidative stress |
| • nitric oxide biosynthetic process |
Pathways
• Tetrahydrobiopterin (BH4) biosynthesis
• Phenylalanine metabolism
• Tyrosine metabolism
• Tryptophan metabolism
• Neurotransmitter synthesis
Protein Summary
6-Pyruvoyltetrahydropterin synthase (PTPS) is a homotetrameric enzyme that catalyzes the conversion of 7,8-dihydroneopterin triphosphate to 6-pyruvoyltetrahydropterin, the second step in BH4 biosynthesis. The enzyme requires a divalent metal ion (Mg2+ or Zn2+) for activity. PTPS deficiency leads to hyperphenylalaninemia and neurotransmitter depletion, treatable with BH4 supplementation and neurotransmitter precursors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTS Knockout HEK293 Cell Line | EDJ-KQ5610 | Human | 5805 | Details Get a Quote |
| SPTSSB Knockout HEK293 Cell Line | EDJ-KQ15506 | Human | 165679 | Details Get a Quote |
| PTS Knockout A-549 Cell Line | EDJ-KQ28897 | Human | 5805 | Details Get a Quote |
| PTS Knockout HCT 116 Cell Line | EDJ-KQ28898 | Human | 5805 | Details Get a Quote |
| PTS Knockout HeLa Cell Line | EDJ-KQ28899 | Human | 5805 | Details Get a Quote |
| SPTSSB Knockout HCT 116 Cell Line | EDJ-KQ45073 | Human | 165679 | Details Get a Quote |
| SPTSSB Knockout HeLa Cell Line | EDJ-KQ58891 | Human | 165679 | Details Get a Quote |
| SPTSSB Knockout A-549 Cell Line | EDJ-KQ67380 | Human | 165679 | Details Get a Quote |
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