Details for: TH

Gene ID: 7054

Symbol: TH

Ensembl ID: ENSG00000180176

Description: tyrosine hydroxylase

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: bladder urothelial cell (CL1001428)
    Fold Change: 4.7474
    Cell Significance Index: 246.6200
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 4.7185
    Cell Significance Index: 51.9900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 2.0507
    Cell Significance Index: 125.7300
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 2.0171
    Cell Significance Index: 34.4800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.9673
    Cell Significance Index: 42.6200
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 1.7541
    Cell Significance Index: 15.4900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.5335
    Cell Significance Index: 49.1200
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 1.2243
    Cell Significance Index: 18.4500
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.8882
    Cell Significance Index: 11.2200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.8121
    Cell Significance Index: 36.8100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.6662
    Cell Significance Index: 126.7900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.4975
    Cell Significance Index: 10.6000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4893
    Cell Significance Index: 48.4100
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.4380
    Cell Significance Index: 4.9000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3438
    Cell Significance Index: 310.4000
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.3434
    Cell Significance Index: 5.5100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3276
    Cell Significance Index: 59.0600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2846
    Cell Significance Index: 30.9600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2617
    Cell Significance Index: 15.7100
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.2575
    Cell Significance Index: 2.6700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2498
    Cell Significance Index: 40.6300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2494
    Cell Significance Index: 30.6700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1373
    Cell Significance Index: 9.5000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0810
    Cell Significance Index: 2.1700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0283
    Cell Significance Index: 1.4800
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.0280
    Cell Significance Index: 0.5700
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.0209
    Cell Significance Index: 0.3000
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.0191
    Cell Significance Index: 0.5500
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.0164
    Cell Significance Index: 0.2400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0158
    Cell Significance Index: 0.3300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0129
    Cell Significance Index: 8.8900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0108
    Cell Significance Index: 1.4800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0097
    Cell Significance Index: 0.3400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0072
    Cell Significance Index: 0.1200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0069
    Cell Significance Index: 3.7500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0002
    Cell Significance Index: 0.0100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0007
    Cell Significance Index: -0.0200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0017
    Cell Significance Index: -3.1400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0018
    Cell Significance Index: -2.7200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0020
    Cell Significance Index: -2.7200
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.0029
    Cell Significance Index: -0.0400
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0032
    Cell Significance Index: -0.1400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0034
    Cell Significance Index: -1.9500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0034
    Cell Significance Index: -2.1100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0035
    Cell Significance Index: -0.4500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0036
    Cell Significance Index: -2.6500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0038
    Cell Significance Index: -0.4400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0044
    Cell Significance Index: -3.3200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0057
    Cell Significance Index: -0.3900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0062
    Cell Significance Index: -2.8200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0074
    Cell Significance Index: -1.4900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0076
    Cell Significance Index: -2.7200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0079
    Cell Significance Index: -2.2700
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.0109
    Cell Significance Index: -0.1400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0116
    Cell Significance Index: -2.4400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0118
    Cell Significance Index: -2.3400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0152
    Cell Significance Index: -2.5900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0162
    Cell Significance Index: -0.4400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0172
    Cell Significance Index: -0.8000
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0178
    Cell Significance Index: -0.3700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0199
    Cell Significance Index: -0.5600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0209
    Cell Significance Index: -2.7000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0216
    Cell Significance Index: -2.4800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0227
    Cell Significance Index: -0.8600
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.0240
    Cell Significance Index: -0.3100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0252
    Cell Significance Index: -3.6700
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.0255
    Cell Significance Index: -0.2400
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0268
    Cell Significance Index: -0.6700
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: -0.0301
    Cell Significance Index: -0.2000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0357
    Cell Significance Index: -2.6600
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: -0.0379
    Cell Significance Index: -0.4800
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: -0.0400
    Cell Significance Index: -0.4300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0406
    Cell Significance Index: -2.0500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0436
    Cell Significance Index: -2.6800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0440
    Cell Significance Index: -2.0700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0526
    Cell Significance Index: -2.9500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0539
    Cell Significance Index: -2.8300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0547
    Cell Significance Index: -1.4600
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: -0.0563
    Cell Significance Index: -0.6700
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: -0.0570
    Cell Significance Index: -0.6100
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.0592
    Cell Significance Index: -0.8600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0618
    Cell Significance Index: -2.7400
  • Cell Name: muscle fibroblast (CL1001609)
    Fold Change: -0.0620
    Cell Significance Index: -0.3800
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0705
    Cell Significance Index: -2.4700
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0706
    Cell Significance Index: -2.5900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0837
    Cell Significance Index: -2.9100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0843
    Cell Significance Index: -2.7600
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.0863
    Cell Significance Index: -1.1100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0873
    Cell Significance Index: -2.7800
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.0902
    Cell Significance Index: -1.4000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0904
    Cell Significance Index: -2.5900
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.0907
    Cell Significance Index: -0.9900
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.0915
    Cell Significance Index: -1.1600
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0942
    Cell Significance Index: -2.5200
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0996
    Cell Significance Index: -1.9700
  • Cell Name: osteoblast (CL0000062)
    Fold Change: -0.1000
    Cell Significance Index: -0.9700
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1012
    Cell Significance Index: -2.9800
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.1021
    Cell Significance Index: -1.4000
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.1021
    Cell Significance Index: -2.3600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.1070
    Cell Significance Index: -1.4600

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 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.

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 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.

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 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

**Key Characteristics** 1. **Tyrosine Hydroxylation**: TYH catalyzes the conversion of tyrosine to L-DOPA, a rate-limiting step in catecholamine biosynthesis. 2. **High Expression**: TYH is highly expressed in sympathetic neurons, chromaffin cells, and dopaminergic neurons, indicating its critical role in the nervous system. 3. **Regulatory Mechanisms**: TYH is subject to feedback inhibition by dopamine and other catecholamines, allowing for precise regulation of catecholamine biosynthesis. 4. **Substrate Specificity**: TYH has a high specificity for tyrosine, with a Km value of approximately 1 μM, making it a highly efficient enzyme. **Pathways and Functions** 1. **Catecholamine Biosynthesis**: TYH is the rate-limiting enzyme in the biosynthesis of dopamine, norepinephrine, and epinephrine, which are essential neurotransmitters and hormones. 2. **Neurotransmission**: TYH is involved in the regulation of neurotransmission, particularly in the sympathetic nervous system, where it modulates the release of catecholamines. 3. **Hormone Regulation**: TYH is also involved in the regulation of hormone secretion, including the release of epinephrine from chromaffin cells. 4. **Energy Metabolism**: TYH is linked to energy metabolism, as catecholamines play a role in glucose and lipid metabolism. **Clinical Significance** 1. **Neurological Disorders**: Variations in the TYH gene have been associated with neurological disorders, such as attention deficit hyperactivity disorder (ADHD) and Parkinson's disease. 2. **Cancer**: TYH is overexpressed in certain types of cancer, including melanoma and colon cancer, suggesting its potential as a therapeutic target. 3. **Pharmacological Applications**: TYH is a target for pharmacological interventions, including dopamine agonists and inhibitors, which can modulate catecholamine biosynthesis and neurotransmission. 4. **Dietary and Environmental Factors**: Dietary and environmental factors, such as tyrosine supplementation and exposure to certain toxins, can influence TYH activity and catecholamine biosynthesis. In conclusion, Tyrosine Hydroxylase is a critical enzyme in the biosynthesis of catecholamines, playing a central role in neurotransmission, hormone regulation, and energy metabolism. Its dysregulation has been implicated in various diseases, and its potential as a therapeutic target makes it an important area of research.

Genular Protein ID: 3648935923

Symbol: TY3H_HUMAN

Name: Tyrosine 3-monooxygenase

UniProtKB Accession Codes:

P07101 B7ZL70 B7ZL73 Q0PWM2 Q0PWM3 Q15585 Q15588 Q15589 Q2M3B4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 2 CTD 1 ChEBI 9 ChEMBL 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 6 DrugCentral 1 EC 1 ELM 1 EMBL 16 EMDB 5 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 80 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 11 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 7 PDBsum 7 PIR 1 PIRSF 1 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 5 RNAct 1 Reactome 1 RefSeq 4 Rhea 2 SABIO-RK 1 SASBDB 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2887169

Title: Isolation of a novel cDNA clone for human tyrosine hydroxylase: alternative RNA splicing produces four kinds of mRNA from a single gene.

PubMed ID: 2887169

DOI: 10.1016/0006-291x(87)90742-x

PubMed ID: 2882428

Title: A single human gene encoding multiple tyrosine hydroxylases with different predicted functional characteristics.

PubMed ID: 2882428

DOI: 10.1038/326707a0

PubMed ID: 2888085

Title: Isolation of a full-length cDNA clone encoding human tyrosine hydroxylase type 3.

PubMed ID: 2888085

DOI: 10.1093/nar/15.16.6733

PubMed ID: 2902075

Title: Structure of the human tyrosine hydroxylase gene: alternative splicing from a single gene accounts for generation of four mRNA types.

PubMed ID: 2902075

DOI: 10.1093/oxfordjournals.jbchem.a122386

PubMed ID: 17391063

Title: Characterisation of novel splicing variants of the tyrosine hydroxylase C-terminal domain in human neuroblastic tumours.

PubMed ID: 17391063

DOI: 10.1515/bc.2007.041

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

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: 2892893

Title: Analysis of the 5' region of the human tyrosine hydroxylase gene: combinatorial patterns of exon splicing generate multiple regulated tyrosine hydroxylase isoforms.

PubMed ID: 2892893

DOI: 10.1111/j.1471-4159.1988.tb03009.x

PubMed ID: 2896667

Title: Expression of human tyrosine hydroxylase cDNA in invertebrate cells using a baculovirus vector.

PubMed ID: 2896667

DOI: 10.1016/s0021-9258(18)68656-9

PubMed ID: 1680128

Title: Phosphorylation of human recombinant tyrosine hydroxylase isoforms 1 and 2: an additional phosphorylated residue in isoform 2, generated through alternative splicing.

PubMed ID: 1680128

DOI: 10.1016/s0021-9258(19)47348-1

PubMed ID: 7901013

Title: Phosphorylation and activation of human tyrosine hydroxylase in vitro by mitogen-activated protein (MAP) kinase and MAP-kinase-activated kinases 1 and 2.

PubMed ID: 7901013

DOI: 10.1111/j.1432-1033.1993.tb18297.x

PubMed ID: 15287903

Title: Effects of phosphorylation by protein kinase A on binding of catecholamines to the human tyrosine hydroxylase isoforms.

PubMed ID: 15287903

DOI: 10.1111/j.1471-4159.2004.02566.x

PubMed ID: 20809526

Title: A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease.

PubMed ID: 20809526

DOI: 10.1002/humu.21351

PubMed ID: 7814018

Title: A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome.

PubMed ID: 7814018

DOI: 10.1007/bf00225091

PubMed ID: 7789962

Title: Frequent sequence variant in the human tyrosine hydroxylase gene.

PubMed ID: 7789962

DOI: 10.1007/bf00209496

PubMed ID: 8528210

Title: Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene.

PubMed ID: 8528210

DOI: 10.1093/hmg/4.7.1209

PubMed ID: 24947669

Title: Phosphorylation dependence and stoichiometry of the complex formed by tyrosine hydroxylase and 14-3-3gamma.

PubMed ID: 24947669

DOI: 10.1074/mcp.m113.035709

PubMed ID: 28637871

Title: Phosphorylation at serine 31 targets tyrosine hydroxylase to vesicles for transport along microtubules.

PubMed ID: 28637871

DOI: 10.1074/jbc.m116.762344

PubMed ID: 34922205

Title: Tyrosine hydroxylase activity is regulated through the modification of the 176th cysteine residue.

PubMed ID: 34922205

DOI: 10.1016/j.bbrc.2021.12.024

PubMed ID: 8817341

Title: Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene.

PubMed ID: 8817341

DOI: 10.1093/hmg/5.7.1023

PubMed ID: 9613851

Title: Association study of structural mutations of the tyrosine hydroxylase gene with schizophrenia and Parkinson's disease.

PubMed ID: 9613851

DOI: 10.1002/(sici)1096-8628(19980328)81:2<131::aid-ajmg2>3.3.co;2-x

PubMed ID: 9754624

Title: Systematic search for variations in the tyrosine hydroxylase gene and their associations with schizophrenia, affective disorders, and alcoholism.

PubMed ID: 9754624

DOI: 10.1002/(sici)1096-8628(19980907)81:5<388::aid-ajmg7>3.3.co;2-f

PubMed ID: 9703425

Title: A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.

PubMed ID: 9703425

DOI: 10.1007/s004390050756

PubMed ID: 10585338

Title: Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency.

PubMed ID: 10585338

PubMed ID: 10391209

Title: Characterization of single-nucleotide polymorphisms in coding regions of human genes.

PubMed ID: 10391209

DOI: 10.1038/10290

PubMed ID: 11246459

Title: Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism.

PubMed ID: 11246459

DOI: 10.1017/s0003480000007922

PubMed ID: 11196107

Title: Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation.

PubMed ID: 11196107

DOI: 10.1023/a:1026760602577

PubMed ID: 15505183

Title: Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency.

PubMed ID: 15505183

DOI: 10.1212/01.wnl.0000142083.47927.0a

PubMed ID: 15747353

Title: Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections.

PubMed ID: 15747353

DOI: 10.1002/mds.20416

PubMed ID: 16049992

Title: Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency.

PubMed ID: 16049992

DOI: 10.1002/pd.1193

PubMed ID: 17696123

Title: Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.

PubMed ID: 17696123

DOI: 10.1002/ana.21199

PubMed ID: 18058633

Title: Tyrosine hydroxylase deficiency presenting with a biphasic clinical course.

PubMed ID: 18058633

DOI: 10.1055/s-2007-991151

PubMed ID: 18554280

Title: Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families.

PubMed ID: 18554280

DOI: 10.1111/j.1399-0004.2008.01039.x

PubMed ID: 19491146

Title: Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.

PubMed ID: 19491146

DOI: 10.1093/brain/awp084

PubMed ID: 20430833

Title: Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.

PubMed ID: 20430833

DOI: 10.1093/brain/awq087

PubMed ID: 20056467

Title: Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese.

PubMed ID: 20056467

DOI: 10.1016/j.ymgme.2009.12.011

PubMed ID: 23939262

Title: A novel compound heterozygous tyrosine hydroxylase mutation (p.R441P) with complex phenotype.

PubMed ID: 23939262

DOI: 10.3233/jpd-2011-11006

PubMed ID: 21940685

Title: A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy.

PubMed ID: 21940685

DOI: 10.1177/0883073811420717

PubMed ID: 22815559

Title: Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency.

PubMed ID: 22815559

DOI: 10.1212/wnl.0b013e318261714a

PubMed ID: 22264700

Title: Tyrosine hydroxylase deficiency in Taiwanese infants.

PubMed ID: 22264700

DOI: 10.1016/j.pediatrneurol.2011.11.012

PubMed ID: 23762320

Title: GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients.

PubMed ID: 23762320

DOI: 10.1371/journal.pone.0065215

PubMed ID: 24753243

Title: Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.

PubMed ID: 24753243

DOI: 10.1002/humu.22565

Sequence Information:

  • Length: 528
  • Mass: 58600
  • Checksum: 31D2D49955ACF070
  • Sequence:
    • MPTPDATTPQ AKGFRRAVSE LDAKQAEAIM VRGQGAPGPS LTGSPWPGTA APAASYTPTP 
RSPRFIGRRQ SLIEDARKER EAAVAAAAAA VPSEPGDPLE AVAFEEKEGK AVLNLLFSPR 
ATKPSALSRA VKVFETFEAK IHHLETRPAQ RPRAGGPHLE YFVRLEVRRG DLAALLSGVR 
QVSEDVRSPA GPKVPWFPRK VSELDKCHHL VTKFDPDLDL DHPGFSDQVY RQRRKLIAEI 
AFQYRHGDPI PRVEYTAEEI ATWKEVYTTL KGLYATHACG EHLEAFALLE RFSGYREDNI 
PQLEDVSRFL KERTGFQLRP VAGLLSARDF LASLAFRVFQ CTQYIRHASS PMHSPEPDCC 
HELLGHVPML ADRTFAQFSQ DIGLASLGAS DEEIEKLSTL YWFTVEFGLC KQNGEVKAYG 
AGLLSSYGEL LHCLSEEPEI RAFDPEAAAV QPYQDQTYQS VYFVSESFSD AKDKLRSYAS 
RIQRPFSVKF DPYTLAIDVL DSPQAVRRSL EGVQDELDTL AHALSAIG

Genular Protein ID: 3105630761

Symbol: P78428_HUMAN

Name: N/A

UniProtKB Accession Codes:

P78428

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 6 GO 1 InterPro 1 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 RefSeq 2 SAM 1 SMR 1

Citations:

PubMed ID: 2892893

Title: Analysis of the 5' region of the human tyrosine hydroxylase gene: combinatorial patterns of exon splicing generate multiple regulated tyrosine hydroxylase isoforms.

PubMed ID: 2892893

DOI: 10.1111/j.1471-4159.1988.tb03009.x

Sequence Information:

  • Length: 65
  • Mass: 6708
  • Checksum: DF95FFDEB4D35E8E
  • Sequence:
    • MPTPDATTPQ AKGFRRAVSE LDAKQAEAIM VRGQGAPGPS LTGSPWPGTA APAASYTPTP 
RSPRF

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.