TH Gene (Protein Coding)

Tyrosine Hydroxylase

GC11M002163
GIFtS:
52
The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have ... See more...

Aliases for TH Gene

Aliases for TH Gene

  • Tyrosine Hydroxylase 2 3 5
  • Tyrosine 3-Monooxygenase 2 3 4
  • Tyrosine 3-Hydroxylase 3 4
  • EC 1.14.16.2 4 50
  • DYT5b 2 3
  • TYH 3 4
  • Dystonia 14 3
  • EC 1.14.16 50
  • DYT14 3
  • TH 5

External Ids for TH Gene

Previous GeneCards Identifiers for TH Gene

  • GC11U990132
  • GC11M002273
  • GC11M002144
  • GC11M002149
  • GC11M002141
  • GC11M002185
  • GC11M001982

Summaries for TH Gene

Entrez Gene Summary for TH Gene

  • The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for TH Gene

TH (Tyrosine Hydroxylase) is a Protein Coding gene. Diseases associated with TH include Segawa Syndrome, Autosomal Recessive and Dystonia. Among its related pathways are Alpha-synuclein signaling and p38 signaling mediated by MAPKAP kinases. Gene Ontology (GO) annotations related to this gene include enzyme binding and oxygen binding. An important paralog of this gene is TPH2.

UniProtKB/Swiss-Prot Summary for TH Gene

  • Plays an important role in the physiology of adrenergic neurons (By similarity). Positively regulates the regression of retinal hyaloid vessels during postnatal development (By similarity).

Gene Wiki entry for TH Gene

Additional gene information for TH Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TH Gene

Genomics for TH Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for TH Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH11J002175 Enhancer 1 FANTOM5 Ensembl ENCODE dbSUPER 267.1 -1.9 -1920 1.2 PAX8 MAFK KDM1A CREB1 MNT TH IGF2 IGF2-AS MIR483 ASCL2 KRTAP5-6 NONHSAG007414.2 HSALNG0082204
GH11J002171 Promoter/Enhancer 0.6 EPDnew CraniofacialAtlas 250.7 +2.4 2410 0.6 ZNF24 TH MIR4686 lnc-INS-3 ENSG00000236710 lnc-INS-2 INS NONHSAG007414.2
GH11J002178 Enhancer 1.2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 16.5 -5.0 -4981 2.3 PKNOX1 ZSCAN4 EGR2 FOS MNT ZFHX2 IGF2 TH IGF2-AS MIR483 ENSG00000236710 ASCL2 SYT8 HSALNG0082204 NONHSAG007414.2
GH11J002131 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 6.7 +32.0 31975 21.1 ZNF654 SSRP1 CEBPA ZIC2 ZBTB10 MXD4 REST CTCF CEBPB FOXA1 IGF2 IGF2-AS RF00483 INS-IGF2 TSSC4 CD81 ENSG00000199550 LSP1 FAM99B LINC02708
GH11J002189 Enhancer 1.5 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 7.8 -18.4 -18432 5.8 NFIC ZIC2 CTCF ZNF217 MBD2 ELF1 CTBP1 SMC3 RAD21 BCL6 TH ASCL2 NAP1L4 H19 HSALNG0082204
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TH on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TH

Top Transcription factor binding sites by QIAGEN in the TH gene promoter:
  • CREB
  • deltaCREB
  • GR
  • GR-alpha

Genomic Locations for TH Gene

Latest Assembly
chr11:2,163,929-2,174,081
(GRCh38/hg38)
Size:
10,153 bases
Orientation:
Minus strand

Previous Assembly
chr11:2,185,159-2,193,045
(GRCh37/hg19 by Entrez Gene)
Size:
7,887 bases
Orientation:
Minus strand

chr11:2,185,159-2,193,107
(GRCh37/hg19 by Ensembl)
Size:
7,949 bases
Orientation:
Minus strand

Genomic View for TH Gene

Genes around TH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TH Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TH Gene

Proteins for TH Gene

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  • Protein details for TH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07101-TY3H_HUMAN
    Recommended name:
    Tyrosine 3-monooxygenase
    Protein Accession:
    P07101
    Secondary Accessions:
    • B7ZL70
    • B7ZL73
    • Q0PWM2
    • Q0PWM3
    • Q15585
    • Q15588
    • Q15589
    • Q2M3B4

    Protein attributes for TH Gene

    Size:
    528 amino acids
    Molecular mass:
    58600 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAA61173.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 5]: Lacks catalytic activity.
    • [Isoform 6]: Lacks catalytic activity.

    Three dimensional structures from OCA and Proteopedia for TH Gene

    Alternative splice isoforms for TH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TH Gene

Protein Expression for TH Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for TH Gene

P07101:
  • EFGLCKQ
  • AKGFRRAVSELD
  • GLLSARDFL
  • GAGLLSS
  • CHHLVTKFDPDLD
  • YWFTVEFGLC
  • HELLGHVPMLADRTFAQFSQ
  • HELLGHVP
  • PQLEDVS
  • RPVAGLLS
  • IEKLSTLYWFTVEFGLCKQ
  • IGLASLG
  • KVFETFEA
  • AVQPYQDQ
  • FLKERTGF
  • YASRIQRPFSVKFDPYTLAIDVLDSP
  • SLGASDE
  • YFVSESF
  • DARKERE

Post-translational modifications for TH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TH Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Invitrogen Antibodies for TH (AFLGC-TH)

Domains & Families for TH Gene

Gene Families for TH Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins

Protein Domains for TH Gene

InterPro:
Blocks:
  • Aromatic amino acid hydroxylase

Suggested Antigen Peptide Sequences for TH Gene

GenScript: Design optimal peptide antigens:
  • TH protein (B7ZL73_HUMAN)
  • Tyrosine hydroxylase (P78428_HUMAN)
  • Tyrosine hydroxylase isoform D1b,2,8,9 (Q0PWM3_HUMAN)
  • Tyrosine hydroxylase (Q2M3B4_HUMAN)
  • Tyrosine hydroxylase (Q7KZ36_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P07101

UniProtKB/Swiss-Prot:

TY3H_HUMAN :
  • Belongs to the biopterin-dependent aromatic amino acid hydroxylase family.
Family:
  • Belongs to the biopterin-dependent aromatic amino acid hydroxylase family.
genes like me logo Genes that share domains with TH: view

Function for TH Gene

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  6. Cell Lines for research

Molecular function for TH Gene

UniProtKB/Swiss-Prot Function:
Plays an important role in the physiology of adrenergic neurons (By similarity). Positively regulates the regression of retinal hyaloid vessels during postnatal development (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin + L-tyrosine + O2 = (4aS,6R)-4a-hydroxy-L-erythro-5,6,7,8-tetrahydrobiopterin + L-dopa; Xref=Rhea:RHEA:18201, ChEBI:CHEBI:15379, ChEBI:CHEBI:15642, ChEBI:CHEBI:57504, ChEBI:CHEBI:58315, ChEBI:CHEBI:59560; EC=1.14.16.2;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Phosphorylation leads to an increase in the catalytic activity.
GENATLAS Biochemistry:
tyrosine 3-hydroxylase,58.5kDa,mainly expressed in brain and adrenal glands,rate limiting enzyme in the biosynthesis of catecholamines,potentially associated with longevity in the male,unlikely to be associated with bipolar effective disorder (MAFD)

Enzyme Numbers (IUBMB) for TH Gene

Phenotypes From GWAS Catalog for TH Gene

Gene Ontology (GO) - Molecular Function for TH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity IEA --
GO:0004511 tyrosine 3-monooxygenase activity IBA,IDA 2896667
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IPI 11943812
GO:0008198 ferrous iron binding IEA --
genes like me logo Genes that share ontologies with TH: view
genes like me logo Genes that share phenotypes with TH: view

Human Phenotype Ontology for TH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TH Gene

MGI Knock Outs for TH:
  • Th Th<tm1Gfng>
  • Th Th<tm1Rpa>
  • Th Th<tm1Srt>
  • Th Th<tm1Tna>
  • Th Th<tm5Rpa>
  • Th Th<tm2Rpa>

Animal Models for research

miRNA for TH Gene

miRTarBase miRNAs that target TH

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TH

No data available for Transcription Factor Targets and HOMER Transcription for TH Gene

Localization for TH Gene

Subcellular locations from UniProtKB/Swiss-Prot for TH Gene

Cytoplasm, perinuclear region.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TH gene
Compartment Confidence
plasma membrane 5
cytosol 5
mitochondrion 4
nucleus 4
endoplasmic reticulum 4
extracellular 3
cytoskeleton 3
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm IBA,IDA 10907721
GO:0005739 mitochondrion IEA --
GO:0005790 smooth endoplasmic reticulum IDA 12457228
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with TH: view

Pathways & Interactions for TH Gene

genes like me logo Genes that share pathways with TH: view

UniProtKB/Swiss-Prot P07101-TY3H_HUMAN

  • Pathway: Catecholamine biosynthesis; dopamine biosynthesis; dopamine from L-tyrosine: step 1/2.

SIGNOR curated interactions for TH Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IDA 17520326
GO:0001963 synaptic transmission, dopaminergic ISS --
GO:0001975 response to amphetamine IEA --
GO:0003007 heart morphogenesis NAS 12113410
GO:0006585 dopamine biosynthetic process from tyrosine IBA,NAS 10907721
genes like me logo Genes that share ontologies with TH: view

Drugs & Compounds for TH Gene

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(89) Drugs for TH Gene - From: DrugBank, PharmGKB, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tetrahydrobiopterin Approved, Investigational Pharma Target, cofactor 0
Metyrosine Approved Pharma Target, binder 0
Phenylalanine Approved, Investigational Nutra Target, binder 268
Tyrosine Approved, Investigational Nutra Target, binder 1149
Methylphenidate Approved, Investigational Pharma 443

(53) Additional Compounds for TH Gene - From: Novoseek, IUPHAR, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
&alpha;-methyltyrosine
Inhibitor, Inhibition
4a-Carbinolamine tetrahydrobiopterin
  • (6R)-2-Amino-6-[(1R,2S)-1,2-dihydroxypropyl]-7,8-dihydro-6H-pteridin-4-one
  • (6R)-6-[(1R,2S)-1,2-Dihydroxypropyl]-7,8-dihydro-6H-pterin
  • 6,7-Dihydrobiopterin
  • Q-H2BPT
  • Quinoid-dihydrobiopterin
 79647-29-3
4a-hydroxytetrahydrobiopterin
  • (4AS,6R)-4a-hydroxy-L-erythro-5,6,7,8-tetrahydrobiopterin
  • (6R)-6-(L-Erythro-1,2-dihydroxypropyl)-5,6,7,8-tetrahydro-4a-hydroxypterin
  • 4a-Hydroxy-5,6,4,8-tetrahydrobiopterin
  • 4a-HTHB
  • 4a-Hydroxy-5,6,7,8-tetrahydrobiopterin
 1379003-93-6
DL-Dopa
  • (+-)-3-(3,4-Dihydroxyphenyl)alanine
  • (+-)-Dopa
  • (R,S)-Dopa
  • 3',4'-Dihydroxyphenylalanine
  • 3-Hydroxy-DL-tyrosine
 63-84-3
genes like me logo Genes that share compounds with TH: view

Transcripts for TH Gene

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mRNA/cDNA for TH Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TH

Alternative Splicing Database (ASD) splice patterns (SP) for TH Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: - -
SP2: -
SP3: - - -
SP4: - - - -
SP5: -
SP6: - -
SP7:

Relevant External Links for TH Gene

GeneLoc Exon Structure for
TH

Expression for TH Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TH Gene

mRNA expression in normal human tissues for TH Gene
mRNA expression by BioGPS for TH GenemRNA expression by GTEx for TH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TH Gene

This gene is overexpressed in Brain - Substantia nigra (x17.9), Brain - Hypothalamus (x15.9), and Adrenal Gland (x13.7).

Protein differential expression in normal tissues from HIPED for TH Gene

This gene is overexpressed in Adrenal (54.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TH Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TH

SOURCE GeneReport for Unigene cluster for TH Gene:

Hs.435609

mRNA Expression by UniProt/SwissProt for TH Gene:

P07101-TY3H_HUMAN
Tissue specificity: Mainly expressed in the brain and adrenal glands.

Evidence on tissue expression from TISSUES for TH Gene

  • Adrenal gland(3.7)
  • Nervous system(3.6)
  • Kidney(2.6)
  • Heart(2.6)
  • Intestine(2.5)
  • Eye(2.5)
  • Liver(2.5)
  • Skin(2.4)
  • Blood(2.4)
  • Muscle(2.3)
  • Bone(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TH Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
Thorax:
  • chest wall
Abdomen:
  • abdominal wall
Limb:
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with TH: view

Primer products for research

No data available for Protein tissue co-expression partners for TH Gene

Orthologs for TH Gene

This gene was present in the common ancestor of animals.

Orthologs for TH Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia TH 29 30
  • 98.6 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TH 29 30
  • 87.27 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia TH 29 30
  • 84.79 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Th 29
  • 84.04 (n)
Mouse
(Mus musculus)
 Mammalia Th 29 16 30
  • 82.96 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia TH 30
  • 64 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia TH 30
  • 61 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves TH 29 30
  • 74.81 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia TH 30
  • 70 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100488900 29
  • 68.37 (n)
Zebrafish
(Danio rerio)
 Actinopterygii th 29 30
  • 67.14 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP006023 29
  • 63.16 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta ple 29 30 31
  • 62.92 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea cat-2 29 30 31
  • 54.37 (n)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.1716 30
  • 46 (a)
 OneToOne
Species where no ortholog for TH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TH Gene

ENSEMBL:
Gene Tree for TH (if available)
TreeFam:
Gene Tree for TH (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TH: view image
Alliance of Genome Resources:
Additional Orthologs for TH

Paralogs for TH Gene

Paralogs for TH Gene

(3) SIMAP similar genes for TH Gene using alignment to 13 proteins:

  • TY3H_HUMAN
  • E7EQI0_HUMAN
  • F8W8M5_HUMAN
  • H0Y670_HUMAN
  • H0Y677_HUMAN
  • P78428_HUMAN
  • Q0PWM2_HUMAN
  • Q0PWM3_HUMAN
  • Q7KZ36_HUMAN
  • Q7KZ38_HUMAN
  • Q7KZ39_HUMAN
  • Q7KZ44_HUMAN
  • Q9UQ57_HUMAN
genes like me logo Genes that share paralogs with TH: view

Variants for TH Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TH Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
1004173 Uncertain Significance: Autosomal recessive DOPA responsive dystonia 2,164,345(-) G/A
NM_000360.4(TH):c.1382C>T (p.Pro461Leu) 		MISSENSE
1005190 Uncertain Significance: Autosomal recessive DOPA responsive dystonia 2,169,703(-) A/G
NM_000360.4(TH):c.259T>C (p.Ser87Pro) 		MISSENSE
1009280 Uncertain Significance: Autosomal recessive DOPA responsive dystonia 2,166,679(-) T/C
NM_000360.4(TH):c.931A>G (p.Thr311Ala) 		MISSENSE
1009319 Uncertain Significance: Autosomal recessive DOPA responsive dystonia 2,171,749(-) C/G
NM_000360.4(TH):c.38G>C (p.Gly13Ala) 		MISSENSE
1010918 Uncertain Significance: Autosomal recessive DOPA responsive dystonia 2,166,955(-) A/G
NM_000360.4(TH):c.773T>C (p.Leu258Pro) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TH Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TH Gene

Variant ID Type Subtype PubMed ID
nsv467645 CNV gain 19166990
nsv469927 CNV loss 18288195
nsv553047 CNV gain 21841781
nsv553068 CNV loss 21841781
nsv553070 CNV loss 21841781
nsv553079 CNV loss 21841781
nsv951284 CNV deletion 24416366

Variation tolerance for TH Gene

Residual Variation Intolerance Score: 64.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.29; 90.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TH Gene

Human Gene Mutation Database (HGMD)
TH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TH
Leiden Open Variation Database (LOVD)
TH

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TH Gene

Disorders for TH Gene

MalaCards: The human disease database

(99) MalaCards diseases for TH Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
segawa syndrome, autosomal recessive
  • parkinsonism, infantile, autosomal recessive
dystonia
  • dystonic disease
dystonia, dopa-responsive
  • drd
phenylketonuria
  • pku
placental insufficiency
  • uteroplacental vascular insufficiency
- elite association - COSMIC cancer census association via MalaCards
Search TH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TY3H_HUMAN
  • Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]: A form of DOPA-responsive dystonia presenting in infancy or early childhood. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Some cases present with parkinsonian symptoms in infancy. Unlike all other forms of dystonia, it is an eminently treatable condition, due to a favorable response to L-DOPA. {ECO:0000269 PubMed:10585338, ECO:0000269 PubMed:11196107, ECO:0000269 PubMed:11246459, ECO:0000269 PubMed:15505183, ECO:0000269 PubMed:15747353, ECO:0000269 PubMed:16049992, ECO:0000269 PubMed:17696123, ECO:0000269 PubMed:18058633, ECO:0000269 PubMed:18554280, ECO:0000269 PubMed:19491146, ECO:0000269 PubMed:20056467, ECO:0000269 PubMed:20430833, ECO:0000269 PubMed:21940685, ECO:0000269 PubMed:22264700, ECO:0000269 PubMed:22815559, ECO:0000269 PubMed:23762320, ECO:0000269 PubMed:23939262, ECO:0000269 PubMed:24753243, ECO:0000269 PubMed:7814018, ECO:0000269 PubMed:8528210, ECO:0000269 PubMed:8817341, ECO:0000269 PubMed:9613851, ECO:0000269 PubMed:9703425}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Note=May play a role in the pathogenesis of Parkinson disease (PD). A genome-wide copy number variation analysis has identified a 34 kilobase deletion over the TH gene in a PD patient but not in any controls. {ECO:0000269 PubMed:20809526}.

Additional Disease Information for TH

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Publications for TH Gene

  1. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. (PMID: 19491146) Clot F ā€¦ French Dystonia Network (Brain : a journal of neurology 2009) 3 4 22 40
  2. Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. (PMID: 8528210) Knappskog PM ā€¦ Bartholomé K (Human molecular genetics 1995) 3 4 22 72
  3. Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. (PMID: 20056467) Mak CM ā€¦ Chan YW (Molecular genetics and metabolism 2010) 3 4 22
  4. Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. (PMID: 20430833) Willemsen MA ā€¦ Wevers RA (Brain : a journal of neurology 2010) 4 22 72
  5. A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease. (PMID: 20809526) Bademci G ā€¦ Wang L (Human mutation 2010) 3 4 40

ExternalLinks

View latest publications for TH gene in Mastermind

Products for TH Gene

  • Invitrogen Antibodies for TH (AFLGC-TH)
  • Addgene plasmids for TH

Sources for TH Gene