TH tyrosine hydroxylase
Gene ID: 7054, updated on 2-Nov-2024Gene type: protein coding
Also known as: TYH; DYT14; DYT5b
- See all available tests in GTR for this gene
- Go to complete Gene record for TH
- Go to Variation Viewer for TH variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease. GeneReviews: Not available | |
| Autosomal recessive DOPA responsive dystonia | not available |
| Genome-wide association scan for variants associated with early-onset prostate cancer. GeneReviews: Not available | |
| Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes. GeneReviews: Not available |
Genomic context
- Location:
- 11p15.5
- Sequence:
- Chromosome: 11; NC_000011.10 (2163929..2171815, complement)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TH variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- TH database
- Variation ViewerRelated Variants
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