Details for: PAH
Associated with
Cells (max top 100)
(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)
- Cell Name: mucosal type mast cell (CL0000485)
Fold Change: 15.8028
Cell Significance Index: -6.4200 - Cell Name: centrilobular region hepatocyte (CL0019029)
Fold Change: 10.2544
Cell Significance Index: 172.7400 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 4.3034
Cell Significance Index: 854.0200 - Cell Name: intrahepatic cholangiocyte (CL0002538)
Fold Change: 3.1245
Cell Significance Index: 11.7700 - Cell Name: hepatoblast (CL0005026)
Fold Change: 1.9246
Cell Significance Index: 32.3700 - Cell Name: midzonal region hepatocyte (CL0019028)
Fold Change: 1.5003
Cell Significance Index: 8.6400 - Cell Name: urothelial cell (CL0000731)
Fold Change: 1.0913
Cell Significance Index: 7.6100 - Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
Fold Change: 0.9314
Cell Significance Index: 22.5600 - Cell Name: periportal region hepatocyte (CL0019026)
Fold Change: 0.9194
Cell Significance Index: 13.5700 - Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 0.5734
Cell Significance Index: 15.3700 - Cell Name: cholangiocyte (CL1000488)
Fold Change: 0.3892
Cell Significance Index: 3.8400 - Cell Name: epithelial cell of nephron (CL1000449)
Fold Change: 0.2377
Cell Significance Index: 2.0200 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.2366
Cell Significance Index: 84.8600 - Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 0.0901
Cell Significance Index: 62.3500 - Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
Fold Change: 0.0853
Cell Significance Index: 2.1300 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.0845
Cell Significance Index: 16.9600 - Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: 0.0729
Cell Significance Index: 5.7700 - Cell Name: pancreatic PP cell (CL0002275)
Fold Change: 0.0640
Cell Significance Index: 39.9400 - Cell Name: epithelial cell of proximal tubule (CL0002306)
Fold Change: 0.0307
Cell Significance Index: 0.2400 - Cell Name: abnormal cell (CL0001061)
Fold Change: 0.0286
Cell Significance Index: 2.9200 - Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
Fold Change: -0.0007
Cell Significance Index: -0.0100 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: -0.0009
Cell Significance Index: -1.7800 - Cell Name: kidney capillary endothelial cell (CL1000892)
Fold Change: -0.0010
Cell Significance Index: -0.0100 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0017
Cell Significance Index: -1.2700 - Cell Name: anterior lens cell (CL0002223)
Fold Change: -0.0021
Cell Significance Index: -3.8700 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: -0.0026
Cell Significance Index: -4.0400 - Cell Name: retinal progenitor cell (CL0002672)
Fold Change: -0.0029
Cell Significance Index: -0.1600 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: -0.0033
Cell Significance Index: -4.4300 - Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0037
Cell Significance Index: -2.7300 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0040
Cell Significance Index: -2.2300 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.0074
Cell Significance Index: -1.2700 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: -0.0085
Cell Significance Index: -5.3800 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0085
Cell Significance Index: -1.7800 - Cell Name: forebrain neuroblast (CL1000042)
Fold Change: -0.0109
Cell Significance Index: -0.6700 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0122
Cell Significance Index: -5.5500 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0172
Cell Significance Index: -4.9600 - Cell Name: pancreatic endocrine cell (CL0008024)
Fold Change: -0.0210
Cell Significance Index: -2.4000 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.0227
Cell Significance Index: -2.6000 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: -0.0315
Cell Significance Index: -5.6700 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0318
Cell Significance Index: -4.6200 - Cell Name: keratinocyte (CL0000312)
Fold Change: -0.0348
Cell Significance Index: -0.8700 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: -0.0401
Cell Significance Index: -5.5000 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: -0.0425
Cell Significance Index: -5.2300 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: -0.0432
Cell Significance Index: -1.2100 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.0461
Cell Significance Index: -4.8100 - Cell Name: lactocyte (CL0002325)
Fold Change: -0.0464
Cell Significance Index: -5.9900 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.0533
Cell Significance Index: -6.2100 - Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
Fold Change: -0.0534
Cell Significance Index: -0.4500 - Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: -0.0542
Cell Significance Index: -1.1500 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: -0.0592
Cell Significance Index: -4.5400 - Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
Fold Change: -0.0610
Cell Significance Index: -0.5800 - Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: -0.0634
Cell Significance Index: -1.3700 - Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.0703
Cell Significance Index: -2.3000 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: -0.0730
Cell Significance Index: -3.7900 - Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: -0.0749
Cell Significance Index: -2.0400 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.0776
Cell Significance Index: -5.7800 - Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.0777
Cell Significance Index: -4.0800 - Cell Name: hippocampal granule cell (CL0001033)
Fold Change: -0.0806
Cell Significance Index: -5.4200 - Cell Name: mesothelial cell of epicardium (CL0011019)
Fold Change: -0.0844
Cell Significance Index: -0.7300 - Cell Name: cortical interneuron (CL0008031)
Fold Change: -0.0851
Cell Significance Index: -2.0400 - Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: -0.0925
Cell Significance Index: -3.2400 - Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: -0.0990
Cell Significance Index: -1.0300 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: -0.1045
Cell Significance Index: -4.8700 - Cell Name: neuron associated cell (CL0000095)
Fold Change: -0.1062
Cell Significance Index: -4.3500 - Cell Name: hepatocyte (CL0000182)
Fold Change: -0.1067
Cell Significance Index: -1.4800 - Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: -0.1078
Cell Significance Index: -2.7700 - Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: -0.1191
Cell Significance Index: -5.2700 - Cell Name: lung endothelial cell (CL1001567)
Fold Change: -0.1203
Cell Significance Index: -6.2700 - Cell Name: cerebellar granule cell (CL0001031)
Fold Change: -0.1237
Cell Significance Index: -2.1200 - Cell Name: glutamatergic neuron (CL0000679)
Fold Change: -0.1257
Cell Significance Index: -1.3700 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: -0.1260
Cell Significance Index: -5.9200 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: -0.1293
Cell Significance Index: -5.8600 - Cell Name: neural cell (CL0002319)
Fold Change: -0.1299
Cell Significance Index: -1.5200 - Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: -0.1330
Cell Significance Index: -2.6300 - Cell Name: neural progenitor cell (CL0011020)
Fold Change: -0.1375
Cell Significance Index: -1.3600 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: -0.1381
Cell Significance Index: -3.9800 - Cell Name: hippocampal interneuron (CL1001569)
Fold Change: -0.1403
Cell Significance Index: -1.8200 - Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.1404
Cell Significance Index: -4.4700 - Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: -0.1408
Cell Significance Index: -5.3300 - Cell Name: fibro/adipogenic progenitor cell (CL0009099)
Fold Change: -0.1421
Cell Significance Index: -7.1800 - Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: -0.1439
Cell Significance Index: -3.5900 - Cell Name: neuron (CL0000540)
Fold Change: -0.1530
Cell Significance Index: -1.4500 - Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: -0.1556
Cell Significance Index: -2.6900 - Cell Name: VIP GABAergic cortical interneuron (CL4023016)
Fold Change: -0.1559
Cell Significance Index: -3.1300 - Cell Name: type I muscle cell (CL0002211)
Fold Change: -0.1631
Cell Significance Index: -3.9800 - Cell Name: GABAergic neuron (CL0000617)
Fold Change: -0.1640
Cell Significance Index: -2.0700 - Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
Fold Change: -0.1659
Cell Significance Index: -1.8300 - Cell Name: sncg GABAergic cortical interneuron (CL4023015)
Fold Change: -0.1692
Cell Significance Index: -3.3300 - Cell Name: L5 intratelencephalic projecting glutamatergic neuron (CL4030064)
Fold Change: -0.1714
Cell Significance Index: -1.8500 - Cell Name: lens fiber cell (CL0011004)
Fold Change: -0.1764
Cell Significance Index: -5.5800 - Cell Name: hippocampal pyramidal neuron (CL1001571)
Fold Change: -0.1801
Cell Significance Index: -5.1400 - Cell Name: slow muscle cell (CL0000189)
Fold Change: -0.1812
Cell Significance Index: -2.7100 - Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
Fold Change: -0.1881
Cell Significance Index: -2.6400 - Cell Name: thymocyte (CL0000893)
Fold Change: -0.1943
Cell Significance Index: -2.4600 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.1944
Cell Significance Index: -5.1900 - Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
Fold Change: -0.1951
Cell Significance Index: -3.8900 - Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
Fold Change: -0.1957
Cell Significance Index: -2.6100 - Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
Fold Change: -0.1958
Cell Significance Index: -2.6100 - Cell Name: kidney epithelial cell (CL0002518)
Fold Change: -0.2006
Cell Significance Index: -5.9100 - Cell Name: leptomeningeal cell (CL0000708)
Fold Change: -0.2016
Cell Significance Index: -4.3100
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Other Information
Genular Protein ID: 544822011
Symbol: PH4H_HUMAN
Name: Phenylalanine-4-hydroxylase
UniProtKB Accession Codes:
Database IDs:
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
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
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
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
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
PubMed ID: 32668217
Title: The Genetic Landscape and Epidemiology of Phenylketonuria.
PubMed ID: 32668217
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
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
PubMed ID: 1672290
Title: Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria.
PubMed ID: 1672290
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
PubMed ID: 1358789
Title: Molecular basis for nonphenylketonuria hyperphenylalaninemia.
PubMed ID: 1358789
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
PubMed ID: 8406445
Title: Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.
PubMed ID: 8406445
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
PubMed ID: 7833954
Title: Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria.
PubMed ID: 7833954
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
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
PubMed ID: 9452062
Title: Identification of seven new mutations in the phenylalanine hydroxylase gene, associated with hyperphenylalaninemia in the Belgian population.
PubMed ID: 9452062
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
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
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
PubMed ID: 11461196
Title: A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics.
PubMed ID: 11461196
PubMed ID: 11935335
Title: Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene.
PubMed ID: 11935335
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
PubMed ID: 23792259
Title: Mutation analysis in Hyperphenylalaninemia patients from South Italy.
PubMed ID: 23792259
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
PubMed ID: 22513348
Title: Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.
PubMed ID: 22513348
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.