Home
Toolbox
Resource
Workflow
Tutorials
Citations
Downloads
Mutation Al-Predictor Flow
Gene-to-Mutation Flow
News & Insights
Genetic Encyclopedia
Frontiers
Industry Insights
Case Studies
About Us
About the Site
Contact Us
Private Policy
User Agreement
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
Log In
|
Sign Up
中文
人类
CASP8 - Caspase 8
Alias:
CAP4
MACH
MCH5
FLICE
ALPS2B
Casp-8
Create a favorites folder
Cancel
Confirm
Add To Favorites
Select a favorites
Description
New favorites >>
Cancel
Confirm
Favorite
Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码半胱氨酸-天冬氨酸蛋白酶(caspase)家族的成员。caspases的序列激活在细胞凋亡的执行阶段起着核心作用。caspases以无活性的酶原形式存在,由一个前域、一个大蛋白酶亚单位和一个小蛋白酶亚单位组成。caspases的激活需要在内含保守的天冬氨酸残基处进行蛋白水解加工,生成一个由大和小亚单位组成的三元异源酶。这个蛋白参与Fas和各种凋亡刺激引起的程序性细胞死亡。这个蛋白的N端具有FADD样死亡效应子结构域,提示它可能与其他Fas相互作用蛋白FADD相互作用。这个蛋白在亨廷顿病患者大脑受影响区域的不溶性部分中被检测到,而在正常对照组中未检测到,这表明它在神经退行性疾病中起作用。已经描述了许多编码不同异型体的可变剪接转录变异体,尽管并非所有变异体都有全长序列已确定。[由RefSeq,2008年7月提供]
Related ID:
NCBI:841
ENSEMBL:ENSG00000064012
HGNC:1509
UNIPROT:Q14790
OMIM:601763
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
841
45
9
54249 bp
55.39
281
4
32
45
CASP8 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Mutation Direct
Sequence
Comparison
Al agent
Tutorials
Back to top