Summary
Performance
Immunogen
Application
Background
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],catalytic activity:P(1)-P(3)-bis(5'-adenosyl) triphosphate + H(2)O = ADP + AMP.,cofactor:Divalent cations. Magnesium, but manganese and to a lesser extent calcium or cobalt can be substituted; but not zinc, cadmium or nickel.,disease:A chromosomal aberration involving FHIT is observed in early onset bilateral and multifocal clear cell renal carcinoma [MIM:144700]. Translocation t(3;8) (3p14.2).,disease:Associated with digestive tract cancers. Numerous tumor types are found to have aberrant forms of FHIT protein due to deletions in a coding region of chromosome 3p14.2 including the fragile site locus FRA3B.,function:Cleaves A-5'-PPP-5'A to yield AMP and ADP. Possible tumor suppressor for specific tissues.,mass spectrometry: PubMed:15007172,similarity:Contains 1 HIT domain.,subunit:Homodimer.,tissue specificity:Low levels expressed in all tissues tested. Phospho-FHIT observed in liver and kidney, but not in brain and lung. Phospho-FHIT undetected in all tested human tumor cell lines.,
Research Area
Purine metabolism;Small cell lung cancer;Non-small cell lung cancer;
