LongevityMap variant
Entry Details
- Longevity Association
- Significant
- Population
- Italian
- Study Design
- An STR marker (HUMTHO1.STR) lies inside TH intron 1 a region involved in RNA alternative splicing of the TH primary transcript for generating four tissue-specific types of mRNA. Association between HUMTHO1 variability (alleles 6, 7, 8, 9, 10*, 10 as defined according to the number of repeats) and longevity was examined in 210 centenarians (68 males and 142 females) and 755 controls (from 13 to 99 years).
- Conclusions
- Among all the alleles examined, allele 10* (10 imperfect repeats) shows a remarkable dominant and beneficial effect in both heterozygous and homozygous genotypes that reduces the log hazard of death in an additive manner
- Identifier
- TH
- In Other Studies (IDs)
- 30 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