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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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C4A - Complement C4A (Rodgers Blood Group)
Alias:
C4
RG
C4S
CO4
C4A2
C4A3
C4A4
C4A6
C4AD
CPAMD2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码补体因子4的酸性形式,是经典激活途径的一部分。该蛋白作为单链前体表达,在分泌前被蛋白水解切割成α、β和γ链的三聚体。三聚体为抗原-抗体复合物与其他补体成分之间的相互作用提供表面。α链被切割以释放C4过敏毒素,这是一种抗菌肽和局部炎症的介质。这个蛋白质的缺乏与系统性红斑狼疮和1型糖尿病有关。这个基因位于染色体6上的主要组织相容性复合体(MHC)III类区域。这个基因簇存在不同的单倍型,使得个体可能有一个、两个或三个拷贝的基因。已经发现这个基因有两个编码不同异型的转录变异体。[RefSeq,2014年11月提供]
Related ID:
NCBI:720
ENSEMBL:ENSG00000244731
HGNC:1323
UNIPROT:P0C0L4
OMIM:120810
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
720
2
41
20625 bp
192.78
32
6
8
35
C4A Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Status
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Link
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References Literature
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