Details for: PAH
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
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.
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.
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
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.