Details for: PAH

Gene ID: 5053

Symbol: PAH

Ensembl ID: ENSG00000171759

Description: phenylalanine hydroxylase

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 6.46
    Marker Score: 21,156
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 3.1
    Marker Score: 4,772
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 2.46
    Marker Score: 8,752
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 2.4
    Marker Score: 12,909
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 2.27
    Marker Score: 2,282
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 2.01
    Marker Score: 12,934
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.95
    Marker Score: 8,411
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.37
    Marker Score: 3,231
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.23
    Marker Score: 462
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.11
    Marker Score: 756
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 1.1
    Marker Score: 1,182
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,826
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,051
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,408
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,426
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5,351
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,739
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.91
    Marker Score: 1,721
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,296
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.85
    Marker Score: 3,297
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.83
    Marker Score: 484
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,269
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 706
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 399
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.71
    Marker Score: 1,446
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 0.7
    Marker Score: 218
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.69
    Marker Score: 432
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.67
    Marker Score: 673
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.6
    Marker Score: 480
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.53
    Marker Score: 3,526
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.52
    Marker Score: 4,438
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.49
    Marker Score: 7,733
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.48
    Marker Score: 29,434
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.45
    Marker Score: 165
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 0.43
    Marker Score: 118
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.43
    Marker Score: 256
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.42
    Marker Score: 1,628
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.42
    Marker Score: 6,260
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.42
    Marker Score: 108
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.41
    Marker Score: 189
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.41
    Marker Score: 132
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.41
    Marker Score: 651
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.4
    Marker Score: 125
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.38
    Marker Score: 722
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.36
    Marker Score: 130
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.35
    Marker Score: 338
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.35
    Marker Score: 130
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.35
    Marker Score: 155
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.34
    Marker Score: 261
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.33
    Marker Score: 173
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.3
    Marker Score: 422
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.29
    Marker Score: 136
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.28
    Marker Score: 122
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.27
    Marker Score: 455
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.27
    Marker Score: 2,042
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.26
    Marker Score: 90
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.25
    Marker Score: 269
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.24
    Marker Score: 4,323
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.24
    Marker Score: 103
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.23
    Marker Score: 361
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.23
    Marker Score: 8,616
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.22
    Marker Score: 132
  • Cell Name: peritubular capillary endothelial cell (CL1001033)
    Fold Change: 0.22
    Marker Score: 51
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.22
    Marker Score: 4,647
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.21
    Marker Score: 214
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.21
    Marker Score: 263
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.21
    Marker Score: 219
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.18
    Marker Score: 40
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.18
    Marker Score: 155
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.17
    Marker Score: 178
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.16
    Marker Score: 640
  • Cell Name: kidney loop of Henle epithelial cell (CL1000909)
    Fold Change: 0.15
    Marker Score: 96
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.15
    Marker Score: 47
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.14
    Marker Score: 599
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.14
    Marker Score: 82
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.14
    Marker Score: 48
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.13
    Marker Score: 55
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.13
    Marker Score: 132
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.12
    Marker Score: 51
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.12
    Marker Score: 56
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.12
    Marker Score: 24
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.12
    Marker Score: 338
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.12
    Marker Score: 115
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.12
    Marker Score: 72
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.11
    Marker Score: 109
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.11
    Marker Score: 1,043
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.11
    Marker Score: 118
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.11
    Marker Score: 504
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.11
    Marker Score: 268
  • Cell Name: mature NK T cell (CL0000814)
    Fold Change: 0.11
    Marker Score: 49
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.1
    Marker Score: 281
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.1
    Marker Score: 58
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.1
    Marker Score: 2,060
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.1
    Marker Score: 67
  • Cell Name: alpha-beta T cell (CL0000789)
    Fold Change: 0.1
    Marker Score: 77
  • Cell Name: lung neuroendocrine cell (CL1000223)
    Fold Change: 0.1
    Marker Score: 28
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.1
    Marker Score: 20
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.1
    Marker Score: 24
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.09
    Marker Score: 24
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.09
    Marker Score: 38

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** Phenylalanine hydroxylase is a non-heme iron-dependent monooxygenase enzyme that catalyzes the hydroxylation of phenylalanine to form tyrosine. This reaction requires the coordinated action of two cofactors: tetrahydrobiopterin (BH4) and oxygen, which are essential for the enzyme's catalytic activity. PAH is a tetrameric enzyme composed of four identical subunits, each containing a single iron ion. The enzyme's activity is regulated by various factors, including BH4 availability, pH, and the presence of inhibitors. **Pathways and Functions:** Phenylalanine hydroxylase is involved in several key metabolic pathways, including: 1. **Amino acid biosynthesis:** PAH is essential for the synthesis of tyrosine, a precursor molecule for various neurotransmitters, such as dopamine, norepinephrine, and epinephrine. 2. **Catecholamine biosynthesis:** The enzyme is also involved in the synthesis of catecholamines, which play critical roles in regulating blood pressure, heart rate, and energy metabolism. 3. **Phenylalanine catabolic process:** PAH is responsible for the breakdown of phenylalanine, which is a critical step in maintaining phenylalanine homeostasis in the body. 4. **Tyrosine biosynthetic process:** The enzyme is involved in the synthesis of tyrosine from phenylalanine, which is essential for various cellular processes, including protein synthesis and neurotransmitter production. **Clinical Significance:** Phenylalanine hydroxylase plays a critical role in the pathogenesis of several diseases, including: 1. **Phenylketonuria (PKU):** PAH deficiency is the primary cause of PKU, a rare genetic disorder characterized by elevated levels of phenylalanine in the blood, which can lead to cognitive impairment and other neurological complications if left untreated. 2. **Tyrosinemia:** PAH deficiency can also lead to tyrosinemia, a disorder characterized by elevated levels of tyrosine in the blood, which can cause liver damage and other systemic complications. 3. **Neurological disorders:** PAH is also implicated in the pathogenesis of various neurological disorders, including Parkinson's disease, schizophrenia, and bipolar disorder, which are characterized by abnormal levels of catecholamines in the brain. In conclusion, phenylalanine hydroxylase is a critical enzyme involved in amino acid metabolism and disease pathogenesis. Its deficiency is a primary cause of several genetic disorders, including PKU and tyrosinemia. Understanding the regulation and function of PAH is essential for the development of novel therapeutic strategies for these diseases.

Genular Protein ID: 544822011

Symbol: PH4H_HUMAN

Name: Phenylalanine-4-hydroxylase

UniProtKB Accession Codes:

P00439 Q16717 Q8TC14

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CTD 1 ChEBI 9 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 10 DrugCentral 1 EC 1 EMBL 4 EMDB 1 EPD 1 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 7 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 10 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 5 OrthoDB 1 PANTHER 2 PDB 26 PDBsum 20 PIR 1 PIRSF 1 PRINTS 1 PRO 1 PROSITE 3 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 2 RefSeq 1 Rhea 1 SABIO-RK 1 SASBDB 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCD-2DPAGE 1 UCSC 1 UniPathway 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 2986678

Title: Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase.

PubMed ID: 2986678

DOI: 10.1021/bi00324a002

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 2461704

Title: A monoclonal antibody to aromatic amino acid hydroxylases. Identification of the epitope.

PubMed ID: 2461704

DOI: 10.1042/bj2550193

PubMed ID: 12185072

Title: Phosphorylation and mutations of Ser(16) in human phenylalanine hydroxylase. Kinetic and structural effects.

PubMed ID: 12185072

DOI: 10.1074/jbc.m112197200

PubMed ID: 18460651

Title: Anabolic function of phenylalanine hydroxylase in Caenorhabditis elegans.

PubMed ID: 18460651

DOI: 10.1096/fj.08-108522

PubMed ID: 18835579

Title: The phylogeny of the aromatic amino acid hydroxylases revisited by characterizing phenylalanine hydroxylase from Dictyostelium discoideum.

PubMed ID: 18835579

DOI: 10.1016/j.gene.2008.09.005

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 9406548

Title: Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria.

PubMed ID: 9406548

DOI: 10.1038/nsb1297-995

PubMed ID: 9843368

Title: Crystallographic analysis of the human phenylalanine hydroxylase catalytic domain with bound catechol inhibitors at 2.0-A resolution.

PubMed ID: 9843368

DOI: 10.1021/bi9815290

PubMed ID: 9642259

Title: Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria.

PubMed ID: 9642259

DOI: 10.1074/jbc.273.27.16962

PubMed ID: 10694386

Title: Crystal structure and site-specific mutagenesis of pterin-bound human phenylalanine hydroxylase.

PubMed ID: 10694386

DOI: 10.1021/bi992531+

PubMed ID: 11718561

Title: High resolution crystal structures of the catalytic domain of human phenylalanine hydroxylase in its catalytically active Fe(II) form and binary complex with tetrahydrobiopterin.

PubMed ID: 11718561

DOI: 10.1006/jmbi.2001.5061

PubMed ID: 32668217

Title: The Genetic Landscape and Epidemiology of Phenylketonuria.

PubMed ID: 32668217

DOI: 10.1016/j.ajhg.2020.06.006

PubMed ID: 1679029

Title: The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations.

PubMed ID: 1679029

DOI: 10.1007/bf00197152

PubMed ID: 2246858

Title: Heterogeneity of phenylketonuria at the clinical, protein and DNA levels.

PubMed ID: 2246858

DOI: 10.1007/bf01799577

PubMed ID: 1301187

Title: Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene.

PubMed ID: 1301187

DOI: 10.1002/humu.1380010104

PubMed ID: 8594560

Title: PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus.

PubMed ID: 8594560

DOI: 10.1093/nar/24.1.127

PubMed ID: 2840952

Title: Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene.

PubMed ID: 2840952

DOI: 10.1021/bi00408a032

PubMed ID: 2564729

Title: Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.

PubMed ID: 2564729

PubMed ID: 2615649

Title: Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation.

PubMed ID: 2615649

PubMed ID: 1975559

Title: Two mutations within the coding sequence of the phenylalanine hydroxylase gene.

PubMed ID: 1975559

DOI: 10.1007/bf00206750

PubMed ID: 1671810

Title: Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation.

PubMed ID: 1671810

PubMed ID: 2014802

Title: Phenylketonuria in U.S. blacks: molecular analysis of the phenylalanine hydroxylase gene.

PubMed ID: 2014802

PubMed ID: 1672294

Title: Phenylketonuria missense mutations in the Mediterranean.

PubMed ID: 1672294

DOI: 10.1016/0888-7543(91)90225-4

PubMed ID: 1672290

Title: Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria.

PubMed ID: 1672290

DOI: 10.1016/0888-7543(91)90238-a

PubMed ID: 1679030

Title: The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria.

PubMed ID: 1679030

DOI: 10.1007/bf00197153

PubMed ID: 1709636

Title: A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria.

PubMed ID: 1709636

DOI: 10.1016/s0021-9258(18)92824-3

PubMed ID: 1358789

Title: Molecular basis for nonphenylketonuria hyperphenylalaninemia.

PubMed ID: 1358789

DOI: 10.1016/s0888-7543(05)80274-5

PubMed ID: 1355066

Title: Identification of a missense phenylketonuria mutation at codon 408 in Chinese.

PubMed ID: 1355066

DOI: 10.1007/bf00221944

PubMed ID: 1363837

Title: A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria.

PubMed ID: 1363837

DOI: 10.1093/hmg/1.9.763

PubMed ID: 1363838

Title: A new PKU mutation associated with haplotype 12.

PubMed ID: 1363838

DOI: 10.1093/hmg/1.9.765

PubMed ID: 8406445

Title: Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.

PubMed ID: 8406445

DOI: 10.1006/geno.1993.1295

PubMed ID: 8098245

Title: Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria.

PubMed ID: 8098245

DOI: 10.1093/hmg/2.1.31

PubMed ID: 8364546

Title: A novel missense mutation in the phenylalanine hydroxylase gene of a homozygous Pakistani patient with non-PKU hyperphenylalaninemia.

PubMed ID: 8364546

DOI: 10.1093/hmg/2.7.1061

PubMed ID: 8068076

Title: Identification of a new missense mutation in Japanese phenylketonuric patients.

PubMed ID: 8068076

DOI: 10.1007/bf00711510

PubMed ID: 8088845

Title: Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients.

PubMed ID: 8088845

DOI: 10.1006/geno.1994.1296

PubMed ID: 7833954

Title: Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria.

PubMed ID: 7833954

DOI: 10.1002/humu.1380040311

PubMed ID: 8889583

Title: PKU mutation (D143G) associated with an apparent high residual enzyme activity: expression of a kinetic variant form of phenylalanine hydroxylase in three different systems.

PubMed ID: 8889583

DOI: 10.1002/(sici)1098-1004(1996)8:3<236::aid-humu7>3.0.co;2-7

PubMed ID: 8889590

Title: Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations.

PubMed ID: 8889590

DOI: 10.1002/(sici)1098-1004(1996)8:3<276::aid-humu14>3.0.co;2-#

PubMed ID: 9048935

Title: Two novel PAH gene mutations detected in Italian phenylketonuric patients.

PubMed ID: 9048935

DOI: 10.1007/s004390050353

PubMed ID: 9101291

Title: Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations.

PubMed ID: 9101291

DOI: 10.1002/(sici)1098-1004(1997)9:4<316::aid-humu3>3.0.co;2-3

PubMed ID: 9634518

Title: A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.

PubMed ID: 9634518

DOI: 10.1086/301920

PubMed ID: 9450897

Title: In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function.

PubMed ID: 9450897

DOI: 10.1002/(sici)1098-1004(1998)11:1<4::aid-humu2>3.0.co;2-l

PubMed ID: 9521426

Title: Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia.

PubMed ID: 9521426

DOI: 10.1002/(sici)1098-1004(1998)11:3<240::aid-humu9>3.0.co;2-l

PubMed ID: 9600453

Title: Molecular basis of phenylketonuria in Venezuela: presence of two novel null mutations.

PubMed ID: 9600453

DOI: 10.1002/(sici)1098-1004(1998)11:5<354::aid-humu2>3.0.co;2-w

PubMed ID: 10200057

Title: Two novel mutations in exon 11 of the PAH gene (1163/1164 del TG and P362T) associated with classic phenylketonuria and mild phenylketonuria.

PubMed ID: 10200057

DOI: 10.1002/(sici)1098-1004(1998)11:6<482::aid-humu15>3.0.co;2-e

PubMed ID: 9452061

Title: Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X.

PubMed ID: 9452061

DOI: 10.1002/humu.1380110140

PubMed ID: 9452062

Title: Identification of seven new mutations in the phenylalanine hydroxylase gene, associated with hyperphenylalaninemia in the Belgian population.

PubMed ID: 9452062

DOI: 10.1002/humu.1380110141

PubMed ID: 9792407

Title: Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles.

PubMed ID: 9792407

DOI: 10.1002/(sici)1098-1004(1998)12:5<314::aid-humu4>3.0.co;2-d

PubMed ID: 9792411

Title: Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene.

PubMed ID: 9792411

DOI: 10.1002/(sici)1098-1004(1998)12:5<344::aid-humu8>3.0.co;2-d

PubMed ID: 9852673

Title: Mutation analysis of the phenylalanine hydroxylase gene and its clinical implications in two Japanese patients with non-phenylketonuria hyperphenylalaninemia.

PubMed ID: 9852673

DOI: 10.1007/s100380050079

PubMed ID: 9950317

Title: Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L).

PubMed ID: 9950317

DOI: 10.1007/s004310051018

PubMed ID: 10679941

Title: Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations.

PubMed ID: 10679941

DOI: 10.1002/(sici)1098-1004(200003)15:3<254::aid-humu6>3.0.co;2-w

PubMed ID: 11326337

Title: Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine.

PubMed ID: 11326337

DOI: 10.1086/320604

PubMed ID: 11180595

Title: Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria.

PubMed ID: 11180595

DOI: 10.1002/1098-1004(200102)17:2<122::aid-humu4>3.0.co;2-c

PubMed ID: 11385716

Title: Molecular analysis of phenylketonuria (PKU) in newborns from Texas.

PubMed ID: 11385716

DOI: 10.1002/humu.1141.abs

PubMed ID: 11461196

Title: A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics.

PubMed ID: 11461196

DOI: 10.1006/mgme.2001.3180

PubMed ID: 11935335

Title: Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene.

PubMed ID: 11935335

DOI: 10.1007/s00439-002-0677-7

PubMed ID: 12501224

Title: Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.

PubMed ID: 12501224

DOI: 10.1056/nejmoa021654

PubMed ID: 18538294

Title: Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability.

PubMed ID: 18538294

DOI: 10.1016/j.ajhg.2008.05.013

PubMed ID: 23792259

Title: Mutation analysis in Hyperphenylalaninemia patients from South Italy.

PubMed ID: 23792259

DOI: 10.1016/j.clinbiochem.2013.06.009

PubMed ID: 22526846

Title: Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.

PubMed ID: 22526846

DOI: 10.1007/s10545-012-9485-y

PubMed ID: 22513348

Title: Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.

PubMed ID: 22513348

DOI: 10.1016/j.ymgme.2012.03.015

Sequence Information:

  • Length: 452
  • Mass: 51862
  • Checksum: 018F00EBBBDDCE2F
  • Sequence:
    • MSTAVLENPG LGRKLSDFGQ ETSYIEDNCN QNGAISLIFS LKEEVGALAK VLRLFEENDV 
NLTHIESRPS RLKKDEYEFF THLDKRSLPA LTNIIKILRH DIGATVHELS RDKKKDTVPW 
FPRTIQELDR FANQILSYGA ELDADHPGFK DPVYRARRKQ FADIAYNYRH GQPIPRVEYM 
EEEKKTWGTV FKTLKSLYKT HACYEYNHIF PLLEKYCGFH EDNIPQLEDV SQFLQTCTGF 
RLRPVAGLLS SRDFLGGLAF RVFHCTQYIR HGSKPMYTPE PDICHELLGH VPLFSDRSFA 
QFSQEIGLAS LGAPDEYIEK LATIYWFTVE FGLCKQGDSI KAYGAGLLSS FGELQYCLSE 
KPKLLPLELE KTAIQNYTVT EFQPLYYVAE SFNDAKEKVR NFAATIPRPF SVRYDPYTQR 
IEVLDNTQQL KILADSINSE IGILCSALQK IK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.