菜单 基因医生

该基因编码的蛋白是一种参与嘌呤代谢的P1-P3-双(5'-腺苷)三磷酸水解酶这个基因包含了3号染色体上常见的脆性位点fra3b,致癌物引起的损伤可导致易位和异常转录。事实上,在大约一半的食管癌、胃癌和结肠癌中发现了这种基因的异常转录物。编码的蛋白质也是一种肿瘤抑制因子,因为其活性的丧失会导致复制应激和DNA损伤[由RefSeq提供,2017年8月]
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]

基因名:FHIT
别名:FRA3B,AP3Aase
基因ID:2272
Chromosome:
(GRCh37)
3 Start: 59735036 End: 61237133 Strand: 
信号通路:  
FHIT 基因突变与药物