Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5053
MIM: 612349
HGNC: 8582
Ensembl: ENSG00000171759
Variants:
dbSNP: 5053
ClinVar: 5053
TCGA: ENSG00000171759
COSMIC: PAH
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA166184060 | carbocisteine | Chemical | ClinicalAnnotation, VariantAnnotation | associated | PK | 19036622 | |
| PA450931 | l-phenylalanine | Chemical | ClinicalAnnotation, VariantAnnotation | ambiguous | PK | 19036622 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38436318 | 2024 | [In vitro expression and functional analyses of the mutants p.R243Q, p.R241C and p.Y356X of the human phenylalanine hydroxylase]. | 0 |
| 38448014 | 2024 | [Analysis of pathogenicity and genotype-phenotype correlation of the c.158G>A variant of phenylalanine hydroxylase gene]. | 0 |
| 38706300 | 2024 | Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Türkiye. | 0 |
| 38731816 | 2024 | Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene. | 0 |
| 38436318 | 2024 | [In vitro expression and functional analyses of the mutants p.R243Q, p.R241C and p.Y356X of the human phenylalanine hydroxylase]. | 0 |
| 38448014 | 2024 | [Analysis of pathogenicity and genotype-phenotype correlation of the c.158G>A variant of phenylalanine hydroxylase gene]. | 0 |
| 38706300 | 2024 | Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Türkiye. | 0 |
| 38731816 | 2024 | Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene. | 0 |
| 36849017 | 2023 | Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia. | 0 |
| 37098607 | 2023 | The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China. | 1 |
| 37237386 | 2023 | Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing. | 0 |
| 37257178 | 2023 | Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia. | 0 |
| 37553307 | 2023 | Mutation Characteristics of Phenylalanine Hydroxylase Gene in Children with Phenylketonuria in Yinchuan City. | 1 |
| 36849017 | 2023 | Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia. | 0 |
| 37098607 | 2023 | The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China. | 1 |
Citation
Dessen P
PAH (phenylalanine hydroxylase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/71633/pah-(phenylalanine-hydroxylase)
