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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
SERPING1 - Serpin Family G Member 1
Alias:
C1IN
C1NH
HAE1
HAE2
C1INH
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种高度糖基化的血浆蛋白,参与补体级联的调节。其编码的蛋白质C1抑制剂,抑制激活的补体第一个成分C1r和C1s,从而调节补体的激活。它是在肝脏中合成的,其缺乏与遗传性血管神经性水肿(HANE)有关。可变剪接导致编码相同异构体的多种转录子变异体。[RefSeq,2020年5月提供]
Related ID:
NCBI:710
ENSEMBL:ENSG00000149131
HGNC:1228
UNIPROT:P05155
OMIM:606860
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
710
2
8
17164 bp
55.15
433
4
7
47
SERPING1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Mutations
No data available
Transcripts & Proteins
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Transcript
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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
Type
Name
MGI
Strain of Origin
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Mutations
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Status
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Link
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References Literature
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