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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
C8G - Complement C8 Gamma Chain
Alias:
C8C
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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属于脂质运载蛋白家族。它是构成补体成分8(C8)的三个亚单位之一,C8由一个二硫键连接的C8α-γ异源二聚体和一个非共价关联的C8β链组成。C8参与细菌细胞膜上的膜攻击复合物(MAC)的形成。虽然α和β亚单位在补体介导的细菌杀灭中起作用,但γ亚单位对细菌杀灭活性不是必需的。[RefSeq,2011年7月提供]
Related ID:
NCBI:733
ENSEMBL:ENSG00000176919
HGNC:1354
UNIPROT:P07360
OMIM:120930
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
733
2
7
1733 bp
22.28
16
1
3
12
C8G Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Type
Name
MGI
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Status
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Link
No data available
References Literature
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