FHIT Chromosome 3
Fragile histidine triad diadenosine triphosphatase
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What This Gene Does
The protein encoded by this gene is a P1-P3-bis(5'-adenosyl) triphosphate hydrolase involved in purine metabolism. This gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. The encoded protein is also a tumor suppressor, as loss of its activity results in replication stress and DNA damage. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Histidine triad superfamily"
Locus Type
gene with protein product
Location
3p14.2
Ensembl
ENSG00000189283
Associated Conditions (1)
Lip and oral cavity carcinoma
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11130760 | Health Risk | association | Lip and oral cavity carcinoma, Lip and oral cavity carcinoma |