PTS
Chr 11AR6-pyruvoyltetrahydropterin synthase
Also known as: PTPS
The encoded enzyme catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate in the biosynthesis of tetrahydrobiopterin (BH4), an essential cofactor for enzymes involved in serotonin biosynthesis and nitric oxide synthase activity. Mutations cause autosomal recessive hyperphenylalaninemia due to BH4 deficiency. The pathogenic mechanism involves disrupted tetrahydrobiopterin synthesis leading to deficient cofactor availability for critical enzymatic processes.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PTS · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
SYNERGY-AI: Artificial Intelligence Based Precision Oncology Clinical Trial Matching and Registry
RECRUITINGOpen-Label, Randomised, Multi-Drug, Biomarker-Directed, Phase 1b Study in Pts w/ Muscle Invasive Bladder Cancer
ACTIVE NOT RECRUITINGPhase Ib Study of Axatilimab in Combination With Olaparib in BRCA1/2 and PALB2- Associated Metastatic HER2-negative Breast Cancer
RECRUITINGRamucirumab Plus Pembrolizumab vs Usual Care for Treatment of Stage IV or Recurrent Non-Small Cell Lung Cancer Following Immunotherapy, Pragmatica-Lung Study
ACTIVE NOT RECRUITINGOctreotide Acetate and Recombinant Interferon Alfa-2b or Bevacizumab in Treating Patients With Metastatic or Locally Advanced, High-Risk Neuroendocrine Tumor
ACTIVE NOT RECRUITINGTesting MK-3475 (Pembrolizumab) as Adjuvant Therapy for Triple Receptor-Negative Breast Cancer
ACTIVE NOT RECRUITINGGemcitabine and Cisplatin Without Cystectomy for Patients With Muscle Invasive Bladder Urothelial Cancer and Select Genetic Alterations
ACTIVE NOT RECRUITINGPrecursor B Cell Acute Lymphoblastic Leukemia (B-ALL) Treated With Autologous T Cells Genetically Targeted to the B Cell Specific Antigen CD19
ACTIVE NOT RECRUITINGCLL Therapy Approaches in Russia
ACTIVE NOT RECRUITINGRecruitment and Apheresis Collection of Peripheral Blood Hematopoietic Stem Cells, Mononuclear Cells and Granulocytes
RECRUITINGT-Lymphocytes Genetically Targeted to the B-Cell Specific Antigen CD19 in Pediatric and Young Adult Patients With Relapsed B-Cell Acute Lymphoblastic Leukemia
ACTIVE NOT RECRUITINGGenetic Testing in Screening Patients With Stage IB-IIIA Non-small Cell Lung Cancer That Has Been or Will Be Removed by Surgery (The ALCHEMIST Screening Trial)
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools