PTS
Chr 11AR6-pyruvoyltetrahydropterin synthase
Also known as: PTPS
The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia. [provided by RefSeq, Oct 2008]
Primary Disease Associations & Inheritance
Clinical highlights
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
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.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
CLL Therapy Approaches in Russia
ACTIVE NOT RECRUITINGLevels of Circulating Tumor DNA as a Predictive Marker for Early Switch in Treatment for Patients With Metastatic (Stage IV) Breast Cancer
ACTIVE NOT RECRUITINGTesting the Addition of a New Anti-cancer Drug, M3814 (Peposertib), to the Usual Radiotherapy in Patients With Locally Advanced Pancreatic Cancer
RECRUITINGImmune Checkpoint Inhibitor Toxicity Risk Prediction in Solid Tumors
RECRUITINGVismodegib, FAK Inhibitor GSK2256098, Capivasertib, and Abemaciclib in Treating Patients With Progressive Meningiomas
RECRUITINGEvaluation of Patients With Immune Function Abnormalities
RECRUITINGS1207 Hormone Therapy With or Without Everolimus in Treating Patients With Breast Cancer
ACTIVE NOT RECRUITINGGenetically Modified T-cells in Treating Patients With Recurrent or Refractory Malignant Glioma
ACTIVE NOT RECRUITINGIdentification of Early Markers for ALS
RECRUITINGTesting MK-3475 (Pembrolizumab) as Adjuvant Therapy for Triple Receptor-Negative Breast Cancer
ACTIVE NOT RECRUITINGEvaluating the Impact of Social and Genetic Factors on Outcomes in Adolescent and Young Adult Cancer Survivors
RECRUITINGCrizotinib in Treating Patients With Stage IB-IIIA Non-small Cell Lung Cancer That Has Been Removed by Surgery and ALK Fusion Mutations (An ALCHEMIST Treatment Trial)
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools