Entrez gene ID | | 2272 |
Official gene symbol | | FHIT |
Full name | | fragile histidine triad gene |
Aliases | | ,AP3Aase,FRA3B, |
Gene summary | | 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] |
Location | | Chromosome: 3 Locus: 3p14.2 |
Gene position | | 61237133 - 59735036 Map Viewer |
Gene orientation | | minus |
Gene size | | 1502098 bp |
Gene sequence |
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OMIM ID | | 601153 |
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