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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
FAS - Fas Cell Surface Death Receptor
Alias:
APT1
CD95
FAS1
APO-1
FASTM
ALPS1A
TNFRSF6
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是TNF受体超家族的成员。这个受体包含一个死亡结构域。已经证明它在程序性细胞死亡的生理调节中起着核心作用,并与各种恶性肿瘤和免疫系统的疾病有关。这个受体与其配体的相互作用允许形成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caspases的自体蛋白水解加工触发下游的caspase级联反应,并导致凋亡。这个受体还被证明可以激活NF-kappaB、MAPK3/ERK1和MAPK8/JNK,并在正常二倍体成纤维细胞和T细胞中转导增殖信号。已经描述了几个可变剪接的转录变异体,其中一些可能是通过无义介导的mRNA衰减(NMD)进行负调控的候选物。缺乏跨膜结构的异构体可能负调控全长异构体介导的凋亡。[RefSeq,2011年3月提供]
Related ID:
NCBI:355
ENSEMBL:ENSG00000026103
HGNC:11920
UNIPROT:P25445
OMIM:134637
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
355
12
9
53010 bp
37.73
360
3
15
44
FAS Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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