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Relevance to Autism

Several studies have found no genetic association between the TH gene and autism in US and French-Caucasian population and PARIS cohorts.

Molecular Function

The encoded protein has tyrosine 3-monooxygenase activity.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
No association of a tyrosine hydroxylase gene tetranucleotide repeat polymorphism in autism, Tourette syndrome, or ADHD.
Negative Association
Possible association of c-Harvey-Ras-1 (HRAS-1) marker with autism.
ASD
Negative Association
Analysis of ten candidate genes in autism by association and linkage.
ASD
Support
Enteric bacterial metabolites propionic and butyric acid modulate gene expression, including CREB-dependent catecholaminergic neurotransmission, in...
Support
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.
ASD
Support
Hypoactivity of the central dopaminergic system and autistic-like behavior induced by a single early prenatal exposure to lipopolysaccharide.
Support
Cytoplasm-predominant Pten associates with increased region-specific brain tyrosine hydroxylase and dopamine D2 receptors in mouse model with autis...
Support
Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome.
Support
Lipopolysaccharide Exposure Induces Maternal Hypozincemia, and Prenatal Zinc Treatment Prevents Autistic-Like Behaviors and Disturbances in the Str...
Support
Valproic acid regulates catecholaminergic pathways by concentration-dependent threshold effects on TH mRNA synthesis and degradation.
Support
Serotonin abnormalities in Engrailed-2 knockout mice: New insight relevant for a model of Autism Spectrum Disorder.
Support
Influence of lead on repetitive behavior and dopamine metabolism in a mouse model of iron overload.
Support
Zinc as a therapy in a rat model of autism prenatally induced by valproic acid.
Support
The contribution of de novo coding mutations to autism spectrum disorder.
ASD
Support
Tyrosine hydroxylase down-regulation after loss of Abelson helper integration site 1 (AHI1) promotes depression via the circadian clock pathway in ...
Highly Cited
Tyrosine hydroxylase-immunoreactive boutons in synaptic contact with identified striatonigral neurons, with particular reference to dendritic spines.
Highly Cited
TYROSINE HYDROXYLASE. THE INITIAL STEP IN NOREPINEPHRINE BIOSYNTHESIS.
Recent Recommendation
Short chain fatty acids induce TH gene expression via ERK-dependent phosphorylation of CREB protein.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN251R001 
 missense_variant 
 c.1511A>C 
 p.Gln504Pro 
 De novo 
  
 Simplex 
 GEN251R002 
 stop_gained 
 c.364C>T 
 p.Arg122Ter 
 Familial 
  
 Simplex 
 GEN251R003 
 splice_site_variant 
 c.695+1G>C 
 p.? 
 Familial 
  
 Simplex 
 GEN251R004 
 missense_variant 
 c.1369G>A 
 p.Val457Met 
 Familial 
  
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Deletion-Duplication
 20
 
11
Duplication
 1
 
11
Duplication
 1
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
DNAJC12 DnaJ homolog subfamily C member 12 56521 Q9UKB3 IP; LC-MS/MS
Huttlin EL , et al. 2015
FAM54A Mitochondrial fission regulator 2 Q6P444 IP; LC-MS/MS
Huttlin EL , et al. 2015
KDM3B lysine (K)-specific demethylase 3B 51780 Q7LBC6 IP; LC-MS/MS
Huttlin EL , et al. 2015
MAP3K7 mitogen-activated protein kinase kinase kinase 7 6885 O43318 IP; LC-MS/MS
Huttlin EL , et al. 2015
NFIC nuclear factor I/C (CCAAT-binding transcription factor) 4782 B7Z4T6 IP; LC-MS/MS
Huttlin EL , et al. 2015
RELL1 RELT-like protein 1 768211 Q8IUW5 IP; LC-MS/MS
Huttlin EL , et al. 2015
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1 10454 A8K6K3 IP; LC-MS/MS
Huttlin EL , et al. 2015
TAOK2 TAO kinase 2 NM_016151 Q9UL54 IP; LC-MS/MS
Huttlin EL , et al. 2015
ZBTB34 zinc finger and BTB domain containing 34 403341 Q8NCN2 IP; LC-MS/MS
Huttlin EL , et al. 2015
Pbx1 pre B cell leukemia homeobox 1 18514 P41778 ChIP-Seq; Luciferase reporter assay
Grebbin BM , et al. 2016

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