菜单 基因医生

这个基因是果蝇脂肪基因的一个直系同源基因,它编码一种在果蝇发育过程中控制细胞增殖所必需的肿瘤抑制因子。该基因产物是钙粘蛋白超家族的一员,是一组完整的膜蛋白,具有钙粘蛋白型重复序列。该基因产物除含有34个钙黏蛋白串联型重复序列外,还含有5个表皮生长因子(egf)样重复序列和1个层粘连蛋白a-g结构域。该基因在一些胎儿上皮中高水平表达。其产物可能作为粘附分子和/或信号受体发挥作用,在发育过程和细胞通讯中可能起重要作用。来自选择性剪接和/或选择性启动子使用的转录变体存在,但尚未完全描述。[由RefSeq提供,2008年7月]
This gene is an ortholog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has five epidermal growth factor (EGF)-like repeats and one laminin A-G domain. This gene is expressed at high levels in a number of fetal epithelia. Its product probably functions as an adhesion molecule and/or signaling receptor, and is likely to be important in developmental processes and cell communication. Transcript variants derived from alternative splicing and/or alternative promoter usage exist, but they have not been fully described. [provided by RefSeq, Jul 2008]

基因名:FAT1
别名:FAT,ME5,CDHF7,CDHR8,hFat1
基因ID:2195
Chromosome:
(GRCh37)
4 Start: 187508937 End: 187647876 Strand: 
信号通路: 能量代谢 
FAT1 基因突变与药物