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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
C3 - Complement C3
Alias:
ASP
C3a
C3b
AHUS5
ARMD9
CPAMD1
HEL-S-62p
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
补体成分C3在补体系统的激活中起核心作用。它的激活对于经典补体激活途径和替代补体激活途径都是必需的。编码的前原蛋白在蛋白水解过程中被加工成α和β亚基,形成成熟的蛋白质,然后进一步加工产生多种肽产物。C3a肽也称为C3a过敏毒素,调节炎症并具有抗菌活性。该基因的突变与人类患者的异常溶血性尿毒症综合征和年龄相关性黄斑变性有关。[RefSeq, Nov 2015提供]
Related ID:
NCBI:718
ENSEMBL:ENSG00000125730
HGNC:1318
UNIPROT:P01024
OMIM:120700
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
718
1
41
42947 bp
187.15
901
6
14
64
C3 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
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
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Acting
Regulation
Detail
Mechanism
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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!
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