LongevityMap Gene

Gene details

HGNC symbol
FHIT 
Aliases
FRA3B; AP3Aase 
Common name
fragile histidine triad 
Description
This gene, a member of the histidine triad gene family, encodes a diadenosine 5',5'''-P1,P3-triphosphate hydrolase involved in purine metabolism. The gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts of this gene. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]
Cytogenetic Location
3p14.2
UCSC Genome Browser
View 3p14.2 on the UCSC genome browser
OMIM
601153
Ensembl
ENSG00000189283
UniProt/Swiss-Prot
A0A024R366_HUMAN
Entrez Gene
2272
UniGene
655995
1000 Genomes
1000 Genomes

Homologs in model organisms

No homologs found

Studies (1)

Significant/Non-significant: 1/0

Longevity Association
Significant
Population
American (Caucasian)
Study Design
Genome-wide association study in 801 centenarians and 914 healthy controls
Conclusions
281 SNPs were found to discriminate between cases and controls
Indentifier
rs10510828
Reference