PAH - phenylalanine hydroxylase Gene
Also Known as PH; PKU; PKU1
Species: Homo sapiens
About PAH
This gene has 18 transcripts (splice variants), 205 orthologues, 3 paralogues and is associated with 7 phenotypes. Biased expression in liver (RPKM 237.1), kidney (RPKM 166.4) and 1 other tissue.
Summary
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]
PAH Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_000277.3 | NP_000268.1 | phenylalanine-4-hydroxylase |
| NM_001354304.2 | NP_001341233.1 | phenylalanine-4-hydroxylase |
PAH Protein Structure
ACT: ACT domain (36 - 93)
Biopterin_H: Biopterin-dependent aromatic amino acid hydroxylase (119 - 450)
- 0
- 100
- 200
- 300
- 400
- 452 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
phenylalanine-4-hydroxylase |
|
Recombinant PAH Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P73733 | PAH Protein, Human (D415N, sf9, His) | P00439 (M1-K452,D415N) | ≥ 95%, as determined by reducing SDS-PAGE or Bis-Tris PAGE. |
PAH Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81951 | PAH Antibody (YA1696) | WB | Human, Mouse, Rat |
| HY-P81951A | PAH Antibody (YA1696)(PBS only) | WB | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Phenylketonuria |
|
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| Hyperphenylalaninemia |
|
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| Mild Hyperphenylalaninemia |
|
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| Classic Phenylketonuria |
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| Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/Phenylketonuria |
|
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| Hyperphenylalaninemia, Bh4-Deficient, A |
|
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| Central Hypoventilation Syndrome, Congenital, 1 |
|
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| Congenital Central Hypoventilation Syndrome |
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| Tyrosinemia |
|
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| Amino Acid Metabolic Disorder |
|
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| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
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| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
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| Hyperphenylalaninemia, Bh4-Deficient, B |
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| Alkaptonuria |
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| Psychotic Disorder |
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| Galactosemia I |
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| Abdominal Obesity-Metabolic Syndrome 1 |
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| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
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| Urea Cycle Disorder |
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| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
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| Carnitine Deficiency, Systemic Primary |
|
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| Maple Syrup Urine Disease |
|
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| Argininemia |
|
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| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
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| Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency |
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| Dystonia |
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| Citrullinemia, Classic |
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| Methylmalonic Acidemia |
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| Propionic Acidemia |
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| Parkinson Disease, Late-Onset |
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| Schizophrenia |
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| Congenital Nervous System Abnormality |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | PAH | VGNC | VGNC:75750 |
| Felis catus | PAH | VGNC | VGNC:68687 |
| Bos taurus | PAH | VGNC | VGNC:32554 |
| Mus musculus | PAH | MGD | MGI:97473 |
| Rattus norvegicus | PAH | RGD | RGD:3248 |
| Others | PAH | NCBI |