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

Homologs in model organisms

Danio rerio
th
Drosophila melanogaster
ple
Mus musculus
Th
Rattus norvegicus
Th

References

Tan et al. (2002)

Other variants which are also part of this study