PAH Chromosome 12
Phenylalanine hydroxylase
Upload your DNA to see your personal genotypes for variants in PAH.
What This Gene Does
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]
Gene Info
Gene Group
Aromatic amino acid hydroxylase family
Locus Type
gene with protein product
Location
12q23.2
Ensembl
ENSG00000171759
Associated Conditions (25)
Phenylketonuria
Inborn genetic diseases
Hyperphenylalaninemia
See cases
PAH-related disorder
RASopathy
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
Hepatocellular carcinoma
Pituitary hormone deficiency
combined
2
Clear cell carcinoma of kidney
Malignant tumor of esophagus
Polymicrogyria
perisylvian
with cerebellar hypoplasia and arthrogryposis
Mild non-PKU hyperphenylalanemia
Malignant tumor of breast
Propionic acidemia
Pulmonary hypertension
+5 more conditions
Key Variants
RS1592949408
Conflicting classifications of pathogenicity
Phenylketonuria, Phenylketonuria
Health Risk
RS1801145
Conflicting classifications of pathogenicity
Phenylketonuria, Inborn genetic diseases, Phenylketonuria
Health Risk
RS199475593
Conflicting classifications of pathogenicity
Phenylketonuria, Phenylketonuria
Health Risk
RS2136649680
Conflicting classifications of pathogenicity
Phenylketonuria, Phenylketonuria
Health Risk
RS2499626242
Conflicting classifications of pathogenicity
Phenylketonuria, Phenylketonuria
Health Risk
RS374999809
Conflicting classifications of pathogenicity
Phenylketonuria, Phenylketonuria
Health Risk
RS62516098
Conflicting classifications of pathogenicity
Phenylketonuria, Phenylketonuria, Phenylketonuria
Health Risk
RS62517206
Conflicting classifications of pathogenicity
Phenylketonuria, Inborn genetic diseases, Phenylketonuria
Health Risk
RS62642912
Conflicting classifications of pathogenicity
Phenylketonuria, Phenylketonuria
Health Risk
RS767075719
Conflicting classifications of pathogenicity
Phenylketonuria, Phenylketonuria, Phenylketonuria
Health Risk
RS1001642956
Likely pathogenic
Phenylketonuria, Phenylketonuria
Health Risk
RS1057516377
Likely pathogenic
Phenylketonuria, Phenylketonuria
Health Risk
All Variants (675)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1162831467 | Health Risk | Pathogenic/Likely pathogenic | Phenylketonuria, Inborn genetic diseases, Phenylketonuria |
| RS1555204492 | Health Risk | Pathogenic/Likely pathogenic | Phenylketonuria, Phenylketonuria |
| RS1555204711 | Health Risk | Pathogenic/Likely pathogenic | Phenylketonuria, Phenylketonuria |
| RS199475572 | Health Risk | Pathogenic/Likely pathogenic | Phenylketonuria, Phenylketonuria, Phenylketonuria |
| RS199475573 | Health Risk | Pathogenic/Likely pathogenic | Phenylketonuria, Phenylketonuria |
| RS199475598 | Health Risk | Pathogenic/Likely pathogenic | Phenylketonuria, Hyperphenylalaninemia, See cases |
| RS199475606 | Health Risk | Pathogenic/Likely pathogenic | Phenylketonuria, Phenylketonuria |
| RS199475614 | Health Risk | Pathogenic/Likely pathogenic | Phenylketonuria, Phenylketonuria, Phenylketonuria |
| RS199475641 | Health Risk | Pathogenic/Likely pathogenic | Phenylketonuria, Phenylketonuria |
| RS199475660 | Health Risk | Pathogenic/Likely pathogenic | Phenylketonuria, Phenylketonuria |
| RS567261857 | Health Risk | Pathogenic/Likely pathogenic | Phenylketonuria, Phenylketonuria |
| RS62507265 | Health Risk | Pathogenic/Likely pathogenic | Phenylketonuria, Phenylketonuria |
| RS62507323 | Health Risk | Pathogenic/Likely pathogenic | Phenylketonuria, Phenylketonuria |
| RS62508591 | Health Risk | Pathogenic/Likely pathogenic | Phenylketonuria, Phenylketonuria |
| RS62508613 | Health Risk | Pathogenic/Likely pathogenic | Phenylketonuria, Phenylketonuria |
| RS62508722 | Health Risk | Pathogenic/Likely pathogenic | Phenylketonuria, Phenylketonuria, Phenylketonuria |
| RS62514903 | Health Risk | Pathogenic/Likely pathogenic | Phenylketonuria, Phenylketonuria |
| RS62514909 | Health Risk | Pathogenic/Likely pathogenic | Phenylketonuria, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, Phenylketonuria |
| RS62516146 | Health Risk | Pathogenic/Likely pathogenic | Phenylketonuria, Phenylketonuria |
| RS62516151 | Health Risk | Pathogenic/Likely pathogenic | Hyperphenylalaninemia, Phenylketonuria, Inborn genetic diseases |
| RS62642930 | Health Risk | Pathogenic/Likely pathogenic | Phenylketonuria, Phenylketonuria |
| RS794727619 | Health Risk | Pathogenic/Likely pathogenic | Phenylketonuria, Phenylketonuria |
| RS796064503 | Health Risk | Pathogenic/Likely pathogenic | Phenylketonuria, Phenylketonuria |
| RS79931499 | Health Risk | Pathogenic/Likely pathogenic | Phenylketonuria, Phenylketonuria, Phenylketonuria |
| RS869312997 | Health Risk | Pathogenic/Likely pathogenic | Phenylketonuria, Phenylketonuria, Phenylketonuria |