PAH
Chr 12ARphenylalanine hydroxylase
Also known as: PH, PKU, PKU1
This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017]
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
This gene — mechanism propensity
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
PAH · 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
Nutritional Impacts of Palynziq on Patients With Phenylketonuria (PKU)
RECRUITINGGene Therapy and Combination Chemotherapy in Treating Patients With AIDS-Related Non-Hodgkin Lymphoma
ACTIVE NOT RECRUITINGFirst-line Gemcitabine Plus Cisplatin in Locally Advanced (IIIC Stage) Breast Cancer Patients
ACTIVE NOT RECRUITINGGenetic Hallmarks of Patients With Congenital Portosystemic Shunts and Portopulmonary Hypertension
NOT YET RECRUITINGBevacizumab/Doxorubicin/Radiation for Sarcoma
ACTIVE NOT RECRUITINGAdult Acute Lymphoblastic Leukemia Treated With Pediatric Regimen in Brazil
RECRUITINGStudy Of Ruxolitinib (INCB018424) With Preoperative Chemotherapy For Triple Negative Inflammatory Breast Cancer
ACTIVE NOT RECRUITINGLung-MAP: A Master Screening Protocol for Previously-Treated Non-Small Cell Lung Cancer
RECRUITINGRutgers University Study of the Genetics of Pulmonary Hypertension
RECRUITINGTesting the Combination of Olaparib and Durvalumab, Cediranib and Durvalumab, Olaparib and Capivasertib, and Cediranib Alone in Recurrent or Refractory Endometrial Cancer Following the Earlier Phase of the Study That Tested Olaparib and Cediranib in Comparison to Cediranib Alone, and Olaparib Alone
ACTIVE NOT RECRUITINGRisk-Adapted Therapy for Young Children With Embryonal Brain Tumors, Choroid Plexus Carcinoma, High Grade Glioma or Ependymoma
ACTIVE NOT RECRUITINGGlobal Patient Registry to Monitor Long-term Safety and Effectiveness of Increlex® in Children and Adolescents With Severe Primary Insulin-like Growth Factor-1 Deficiency (SPIGFD).
RECRUITINGExternal Resources
Links to major genomics databases and tools