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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
C4BPA - Complement Component 4 Binding Protein Alpha
Alias:
PRP
C4BP
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个主要由约60个氨基酸的短共识重复序列组成的超级家族蛋白成员。与一个独特的β链一起,这个基因编码的7个相同的α链组装成C4b结合蛋白的主要异构体,这是一种通过经典途径控制补体级联激活的多聚蛋白。编码α和β链的基因在人类染色体1上的补体激活调节基因簇中相邻分布。这个基因的两个假基因也在该簇中被发现。[由RefSeq,2008年7月提供]
Related ID:
NCBI:722
ENSEMBL:ENSG00000123838
HGNC:1325
UNIPROT:P04003
OMIM:120830
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
722
3
12
40740 bp
67.03
43
--
9
15
C4BPA Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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Score
Mutations
No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Interactions
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Related Mouse Models
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Name
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Status
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Link
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References Literature
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