TH
Homo sapiens
Gene Name: tyrosine hydroxylase
Aliases: TYH
Chromosome No: 11
Chromosome Band: 11p15.5
Genetic Category: Genetic Association--Functional-Rare single gene variant-Syndromic
Aliases: TYH
Chromosome No: 11
Chromosome Band: 11p15.5
Genetic Category: Genetic Association--Functional-Rare single gene variant-Syndromic
Summary Statistics:
ASD Reports: 21
Recent Reports: 1
Annotated variants: 8
Associated CNVs: 3
Evidence score: 2
ASD Reports: 21
Recent Reports: 1
Annotated variants: 8
Associated CNVs: 3
Evidence score: 2
| Associated Disorders: |
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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
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
Exploring the biological role of postzygotic and germinal de novo mutations in ASD
ASD
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 ...
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.
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.
