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
C7 - Complement C7
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
这个基因编码一种血清糖蛋白,与补体成分C5b、C6、C8和C9一起形成膜攻击复合物,作为先天免疫系统的终端补体途径的一部分。这个基因编码的蛋白质含有胆固醇依赖性细胞溶解素/膜攻击复合物/穿孔蛋白样(CDC/MACPF)结构域,并属于一大类结构上相关的分子家族,这些分子形成参与宿主免疫和细菌病理学的孔。这个蛋白质通过结合C5b-C6亚复合物并开始插入磷脂双层中作为膜锚来启动膜攻击复合物的形成。这个基因的突变与一种罕见的疾病称为C7缺陷有关。[RefSeq提供,2016年11月]
Related ID:
NCBI:730
ENSEMBL:ENSG00000112936
HGNC:1346
UNIPROT:P10643
OMIM:217070
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
730
1
18
75147 bp
93.52
431
2
4
14
C7 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