菜单 基因医生

这个基因编码的蛋白质是肿瘤坏死因子受体超家族的一员。这个受体包含一个死亡结构域。它在细胞程序性死亡的生理调节中起着重要作用,并与多种恶性肿瘤和免疫系统疾病的发病机制有关。这种受体与其配体的相互作用允许形成一种死亡诱导信号复合物,包括fas相关死亡结构域蛋白(fadd)、caspase 8和caspase 10。复合物中半胱氨酸天冬氨酸蛋白酶的自蛋白溶解过程触发下游半胱氨酸天冬氨酸天冬氨酸天冬氨酸酶级联反应,导致细胞凋亡。该受体也被证实激活了nf-kappab、mapk3/erk1和mapk8/jnk,并被发现参与了正常二倍体成纤维细胞和t细胞增殖信号的转导。已经描述了几种选择性剪接的转录变体,其中一些是无义介导的mrna衰变(nmd)的候选者。缺乏跨膜结构域的亚型可能对全长亚型介导的细胞凋亡产生负调控作用。[由RefSeq提供,2011年3月]
The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011]

基因名:FAS
别名:APT1,CD95,FAS1,APO-1,FASTM,ALPS1A,TNFRSF6
基因ID:355
Chromosome:
(GRCh37)
10 Start: 90750288 End: 90775542 Strand: 
信号通路: 细胞增殖  炎症相关  基因组不稳定  凋亡抑制 
FAS 基因突变与药物