LongevityMap variant
Entry Details
- Longevity Association
- Significant
- Population
- Italian
- Study Design
- Polymorphic repeats in intron 1 (Short and Long alleles) were examined in 196 centenarians (143 females and 53 males) and 358 controls (196 females and 162 male; 10-85 years old)
- Conclusions
- A significant loss of LL homozygous genotypes was found at the THO locus in male but not in female centenarians with respect to matched controls
- Identifier
- TH
- In Other Studies (IDs)
- 88 1148
- Cytogenetic Location
- 11p15.5
- UCSC Genome Browser
- View 11p15.5 on the UCSC genome browser
Gene details
- HGNC symbol
- TH
- Aliases
- TYH; DYT14; DYT5b
- Common name
- tyrosine hydroxylase
- Description
- 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]
- Other longevity studies of this gene
- 4
- OMIM
- 191290
- Ensembl
- ENSG00000180176
- UniProt/Swiss-Prot
- P78428_HUMAN
- Entrez Gene
- 7054
- UniGene
- 435609
- HapMap
- View on HapMap