PAH - phenylalanine hydroxylase Gene

Also Known as PH; PKU; PKU1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5053

About PAH

Cytogenetic location: 12q23.2 Genomic coordinates (GRCh38): 12:102,836,889-102,958,441 (from NCBI)

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: ACT domain (36 - 93)

Biopterin_H

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

  • phe-4-monooxygenase

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
  • Phenylalanine Hydroxylase Deficiency

  • PKU

  • Pah Deficiency

  • Folling Disease

  • Maternal Phenylketonuria

  • Phenylketonurias

  • Oligophrenia Phenylpyruvica

  • Hyperphenylalaninemia, Non-Pku Mild

  • Folling'S Disease

  • Phenylalaninemia

  • Mild Phenylketonuria

  • Mild Pku

  • Variant Pku

  • Variant Phenylketonuria

  • Mpku

  • Deficiency Disease, Phenylalanine Hydroxylase

  • Phenylketonuria, Maternal

  • Phenylalanine Hydroxylase Deficiency Disease

  • Hyperphenylalaninemic Embryopathy

  • Maternal Pku

  • Maternal Hyperphenylalaninemia

  • Phenylketonuric Embryopathy

  • Hyperphenylalaninemia

  • HPA

  • Non-Phenylketonuria Hyperphenylalaninemia

  • NON-PKU HPA

  • Phenylketonuria Maternal

  • Classical Phenylketonuria

  • Hyperphenylalaninaemia

  • Pku - [Phenylketonuria]

Hyperphenylalaninemia
  • Hyperphenylalaninaemia

Mild Hyperphenylalaninemia
  • Mild Hpa

  • Non-Pku Hpa

  • Mhpa

Classic Phenylketonuria
  • Classical Phenylketonuria

  • Classic Pku

  • Phenylketonuria Classical

  • Phenylpyruvic Oligophrenia

  • Oligophrenia Phenylpyruvica

  • Imbecilitus Phenylpyruvica

  • Typical Phenylketonuria

  • Phenylpyruvic Aciduria

  • Pah - [Phenylalanine Hydroxylase] Deficiency

  • Hyperphenylalaninaemia Type I

  • Typical Pku - [Phenylketonuria]

  • Folling Disease

Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/Phenylketonuria
  • Bh4-Responsive Hpa/Pku

  • Bh4-Responsive Hyperphenylalaninemia/Phenylketonuria

  • Tetrahydrobiopterin-Responsive Hpa/Pku

Hyperphenylalaninemia, Bh4-Deficient, A
  • 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

  • Pts Deficiency

  • HPABH4A

  • Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pts Deficiency

  • Ptsd

  • Bh4-Deficient Hyperphenylalaninemia A

  • Hyperphenylalaninemia Due To 6-Pyruvoyltetrahydropterin Synthase Deficiency

  • Tetrahydobioperin-Deficient Hyperphenylalaninemia Due To Pts Deficiency

  • Hyperphenylalanemia, Bh4-Deficient, A

  • Hyperphenylalaninemia Due To 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

  • 6-Pyruvoyltetrahydropterin Synthase Deficiency

  • Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due To Pts Deficiency

  • Ptpsd

  • Hyperphenylalaninemia, Bh4-Deficient, Type A

Central Hypoventilation Syndrome, Congenital, 1
  • Cchs

  • CCHS1

  • Central Hypoventilation Syndrome, Congenital, 1, With Or Without Hirschsprung Disease

  • Central Hypoventilation Syndrome, Congenital

  • Congenital Failure Of Autonomic Control

  • Autonomic Control, Congenital Failure Of

  • Ondine Curse, Congenital

  • Ondine Curse

  • Central Hypoventilation Syndrome, Congenital, 1, With Or Without Hirschsprung

  • Hypoventilation, Central, Syndrome, Congenital, Type 1

  • Congenital Central Hypoventilation

  • Sleep Apnea, Central

  • Central Alveolar Hypoventilation Syndrome

  • Cchs With Hirschsprung Disease

  • Congenital Central Alveolar Hypoventilation Syndrome

  • Sleep-Related Respiratory Failure

  • Hypoventilation

Congenital Central Hypoventilation Syndrome
  • Cchs

  • Haddad Syndrome

  • Ondine Curse

  • Ondine Syndrome

  • Congenital Central Hypoventilation

  • Congenital Central Alveolar Hypoventilation Syndrome

  • Congenital Failure Of Autonomic Control

  • Ondine'S Curse

  • Primary Alveolar Hypoventilation

  • Ondine-Hirschsprung Disease

  • Central Congenital Hypoventilation Syndrome

  • Congenital Ondine Curse

  • Idiopathic Congenital Central Alveolar Hypoventilation

  • Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome

  • Ondine-Hirschsprung Syndrome

Tyrosinemia
  • Hypertyrosinemia

  • Tyrosinemias

  • Hereditary Tyrosinemia

  • Hypertyrosinaemia

  • Tyrosinaemia

  • Hereditary Hypertyrosinemia

Amino Acid Metabolic Disorder
  • Amino Acid Metabolism, Inborn Errors

  • Inborn Errors Of Amino Acid Metabolism

  • Disorder Of Amino Acid Metabolism

  • Amino Acid Metabolism Disorders

Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
  • Sepiapterin Reductase Deficiency

  • Spr Deficiency

  • Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency

  • Srd

  • Drd Due To Srd

  • Dopa-Responsive Hypersomnia

  • Dyt-Spr

  • Dyt/Park-Spr

  • Sr-Deficient Drd

  • Autosomal Recessive Sepiapterin Reductase-Deficient Drd

  • Spr

  • DRDSPRD

  • Motor And Cognitive Disorder Due To Sepiapterin Reductase Deficiency

  • Psychomotor Disorders

Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
  • Vitiligo

  • VAMAS1

  • Slev1

  • Vtlg

  • Systemic Lupus Erythematosus, Vitiligo-Related

  • Vitiligo-Associated Multiple Autoimmune Disease 1

  • Systemic Lupus Erythematosus Vitiligo-Related

Hyperphenylalaninemia, Bh4-Deficient, B
  • Gtp Cyclohydrolase I Deficiency

  • HPABH4B

  • Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Gtp Cyclohydrolase I Deficiency

  • Bh4-Deficient Hyperphenylalaninemia B

  • Gtp Cyclohydrolase 1 Deficiency

  • Tetrahydrobiopterin-Deficient Hyperphenylalaninemia B

  • Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Gtp Cyclohydrolase 1 Deficiency

  • Gtpch Deficiency

  • Hyperphenylalaninemia Due To Gtp Cyclohydrolase Deficiency

  • Atypical Severe Phenylketonuria Due To Gtp Cyclohydrolase I Deficiency

  • Gch1 Deficiency

  • Guanosine Triphosphate Cyclohydrolase I Deficiency

  • Hyperphenylalaninemia With Neopterin Deficiency

Alkaptonuria
  • Homogentisic Acid Oxidase Deficiency

  • Alcaptonuria

  • AKU

  • Deficiency Of Homogentisicase

  • Homogentisate 1,2-Dioxygenase Deficiency

  • Alkaptonuric Ochronosis

  • Homogentisic Acidura

  • Ochronosis, Hereditary

  • Hereditary Ochronosis

  • Ochronosis

  • Homogentisicaciduria

  • Deficiency Of Homogentisate Oxygenase

Psychotic Disorder
  • Psychotic Disorders

  • Mental Or Behavioural Disorder

  • Psychotic

  • Mental Disorders

Galactosemia I
  • Galactosemia

  • Galt Deficiency

  • Classic Galactosemia

  • Galactose-1-Phosphate Uridylyltransferase Deficiency

  • Galactose-1-Phosphate Uridyltransferase Deficiency

  • GALAC1

  • Galactosemia, Classic

  • Galactosemia Type 1

  • Galactosemias

  • Classical Galactosemia

  • Galactosaemia

  • Galactose Intolerance

  • Epimerase Deficiency Galactosemia

  • Galactokinase Deficiency Disease

  • Galactose Epimerase Deficiency

  • Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease

  • Gale Deficiency

  • Galk Deficiency

  • Udp-Galactose-4-Epimerase Deficiency Disease

  • Utp Hexose-1-Phosphate Uridylyltransferase Deficiency

  • Galactosemia 1

  • Galactosemia, Duarte Variant

  • Deficiency Of Galactokinase

  • Udpglucose 4-Epimerase Deficiency Disease

  • Classical Galactosaemia

  • Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency

  • Classic Galactosaemia

  • Deficiency Of Hexose-1-Phosphate Uridylyltransferase

  • Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase

  • Deficiency Of Galactose-1-Phosphate Uridylyltransferase

  • Galactose-1-Phosphate Uridyl Transferase Deficiency

  • Transferase Deficiency Galactosemia

  • Deficiency Of Uridyl Transferase

  • Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase

  • Utp-Hexose-1-Phosphate Uridyltransferase Deficiency

Abdominal Obesity-Metabolic Syndrome 1
  • Metabolic Syndrome X

  • Metabolic Syndrome

  • AOMS1

  • Dysmetabolic Syndrome X

  • Metabolic Disease

  • Abdominal Obesity Metabolic Syndrome

Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
  • Mcad Deficiency

  • Carnitine Deficiency Secondary To Medium-Chain Acyl-Coa Dehydrogenase Deficiency

  • Acadm Deficiency

  • Acyl-Coa Dehydrogenase, Medium Chain, Deficiency Of

  • Medium Chain Acyl-Coa Dehydrogenase Deficiency

  • ACADMD

  • Mcadh Deficiency

  • Mcadd

  • Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency

  • Acyl-Coa Dehydrogenase Medium-Chain Deficiency

  • Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

  • Medium Chain Acyl Dehydrogenase Deficiency

Urea Cycle Disorder
  • Urea Cycle Disorders

  • Urea Cycle Disorders, Inborn

  • Disorder Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia

  • Disorder Of Urea Cycle Metabolism

  • Urea Cycle Defect

  • Ucd

  • Disorder Of The Urea Cycle Metabolism

  • Disorder Of Urea Cycle

  • Disorders Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia

  • Ammonia Metabolic Disorder

Aromatic L-Amino Acid Decarboxylase Deficiency
  • Aadc Deficiency

  • Dopa Decarboxylase Deficiency

  • Ddc Deficiency

  • Aromatic Amino Acid Decarboxylase Deficiency

  • Deficiency Of Aromatic-L-Amino-Acid Decarboxylase

  • AADCD

  • Aromatic-L-Amino-Acid Decarboxylase Deficiency

  • Aromatic L-Amino-Acid Decarboxylase Deficiency

Carnitine Deficiency, Systemic Primary
  • Carnitine Uptake Defect

  • Renal Carnitine Transport Defect

  • Systemic Primary Carnitine Deficiency

  • CDSP

  • Systemic Carnitine Deficiency

  • Carnitine Transporter Deficiency

  • Cud

  • Primary Carnitine Deficiency

  • Carnitine Uptake Deficiency

  • Carnitine Deficiency, Systemic, Due To Defect In Renal Reabsorption Of Carnitine

  • Carnitine Deficiency, Primary

  • Systemic Primary Carnitine Deficiency Disease

  • Deficiency Of Plasma-Membrane Carnitine Transporter

  • Scd

  • Carnitine Transporter, Plasma-Membrane, Deficiency Of

  • Carnitine Transport Defect

  • Carnitine Plasma-Membrane Transporter Deficiency

  • Carnitine Transporter Defect

  • Spcd

Maple Syrup Urine Disease
  • MSUD

  • Bckd Deficiency

  • Branched-Chain Ketoaciduria

  • Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency

  • Keto Acid Decarboxylase Deficiency

  • Maple Syrup Urine Disease, Type Ii

  • Branched Chain Ketoaciduria

  • Classic Maple Syrup Urine Disease

  • Intermittent Maple Syrup Urine Disease

  • Maple Syrup Urine Disease, Type Ia

  • Ketoacidaemia

  • Bckdh Deficiency

  • Branched-Chain 2-Ketoacid Dehydrogenase Deficiency

  • Thiamine-Responsive Maple Syrup Urine Disease

  • Intermediate Maple Syrup Urine Disease

  • Maple Syrup Urine Disease Type 1a

  • Maple Syrup Urine Disease Type 1b

  • Maple Syrup Urine Disease Type 2

  • Maple Syrup Urine Disease, Type Ib

  • Dihydrolipoamide Dehydrogenase Deficiency

  • Branched-Chain Ketoacid Dehydrogenase Deficiency

  • Maple Syrup Disease

  • Ketoacidemia

  • Classic Bckd Deficiency

  • Classic Msud

  • Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

  • Classic Branched-Chain Ketoaciduria

  • Thiamine-Responsive Bckd Deficiency

  • Thiamine-Responsive Msud

  • Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

  • Intermittent Bckd Deficiency

  • Intermittent Msud

  • Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

  • Maple Syrup Urine Disease 1a

  • MSUD1A

  • Maple Syrup Urine Disease Type Ia

  • Msud Type Ia

  • Maple Syrup Urine Disease 1b

  • MSUD1B

  • Maple Syrup Urine Disease Type Ib

  • Msud Type Ib

  • Maple Syrup Urine Disease 2

  • MSUD2

  • Maple Syrup Urine Disease Type Ii

  • Msud Type Ii

  • Nadh Cytochrome B5 Reductase Deficiency

  • Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency

  • Ketonemia

  • Maple Syrup Urine Disease, Type 1b

  • Ketoacid Decarboxylase Deficiency

  • Oxoacid Decarboxylase Deficiency

  • Branched Chain Ketoacid Dehydrogenase Deficiency

  • Msud - [Maple-Syrup-Urine Disease]

  • Ketoaminoacidaemia

  • Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency]

  • Maple-Syrup-Urine Disorder

  • Maple-Syrup-Urine Syndrome

Argininemia
  • Hyperargininemia

  • Arginase Deficiency

  • Arg1 Deficiency

  • Arginase-1 Deficiency

  • Deficiency Of Canavanase

  • Arginase Deficiency Disease

  • ARGIN

Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
  • Ornithine Carbamoyltransferase Deficiency

  • Ornithine Transcarbamylase Deficiency

  • Otc Deficiency

  • Ornithine Carbamoyltransferase Deficiency Disease

  • OTCD

  • Deficiency Of Citrulline Phosphorylase

  • Oct Deficiency

  • Hyperammonemia Due To Ornithine Carbamoyltransferase Deficiency

  • Deficiency, Ornithine Carbamoyltransferase

Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency
  • Favism

  • Favism, Susceptibility To

  • Hemolytic Anemia, G6pd Deficient

  • Class I Glucose-6-Phosphate Dehydrogenase Deficiency

  • Class I G6pd Deficiency

  • Severe Hemolytic Anemia Due To G6pd Deficiency

  • Anemia, Non-Spherocytic Hemolytic, Due To G6pd Deficiency

  • NSHA

  • G6pd Deficient Hemolytic Anemia

Dystonia
  • Dystonic Disease

  • Dystonic Disorder

  • Dystonia Disorders

  • Neuroleptic Dyskinesia

Citrullinemia, Classic
  • Citrullinemia

  • Classic Citrullinemia

  • Argininosuccinate Synthetase Deficiency

  • Ass Deficiency

  • Citrullinemia Type I

  • CTLN1

  • Citrullinuria

  • Citrullinemia, Type I

  • Argininosuccinic Acid Synthetase Deficiency

  • Ctnl1

  • Citrullinemia 1

  • Deficiency Of Citrulline-Aspartate Ligase

  • Cit

  • Argininosuccinate Synthase Deficiency

  • Argininosuccinic Acid Synthase Deficiency

  • Citrullinemia Type 1

  • Citrullinemia Classical

Methylmalonic Acidemia
  • Methylmalonic Aciduria

  • Mma

  • Acidemia, Methylmalonic

  • Isolated Methylmalonic Acidemia

Propionic Acidemia
  • Ketotic Hyperglycinemia

  • Propionyl-Coa Carboxylase Deficiency

  • Pcc Deficiency

  • Propionicacidemia

  • Glycinemia, Ketotic

  • Hyperglycinemia With Ketoacidosis And Leukopenia

  • Ketotic Glycinemia

  • Propionic Aciduria

  • Prop

  • Acidemia, Propionic

  • PA-1

  • Ketotic Ii Glycinemia

  • Hyperglycinemia, Ketotic

  • Propionic Acidemia Type I

  • Propionic Acidemia Type Ii

  • PA-2

  • Propionicaciduria

Parkinson Disease, Late-Onset
  • Parkinson Disease

  • Parkinson'S Disease

  • PD

  • PARK

  • Parkinson Disease, Susceptibility To

  • Late Onset Parkinson'S Disease

  • Late Onset Parkinson Disease

  • Paralysis Agitans

  • Primary Parkinsonism

  • Idiopathic Parkinson Disease

  • Parkinson'S

  • Parkinson Disease, Late-Onset, Susceptibility To

  • Parkinson Disease, Age Of Onset, Modifier

  • Lewy Body Parkinson Disease

  • Idiopathic Parkinson'S Disease

  • Pd - [Parkinson Disease]

  • Parkinson Disease Nos

  • Parkinson, Nos

  • Primary Parkinson Disease

Schizophrenia
  • SCZD

  • Schizophrenia With Or Without An Affective Disorder

  • Schizophrenia 12

  • Schizophrenia, Susceptibility To

  • Schizophrenia-1

  • Dementia Praecox

  • Schizophrenia 1

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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