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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
SERPINF2 - Serpin Family F Member 2
Alias:
AAP
API
PLI
A2AP
alpha2AP
ALPHA-2-PI
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码丝氨酸蛋白酶抑制剂丝氨酸蛋白酶抑制剂家族的一员。这种蛋白质是纤溶酶的主要抑制剂,纤溶酶降解纤维蛋白和各种其他蛋白质。因此,这个基因的正常功能在调节血液凝固途径中具有重要作用。这个基因的突变导致α-2-纤溶酶抑制剂缺乏,其特征是严重的出血倾向。已经发现这个基因有多种转录变异体,编码不同的异构体。[由RefSeq,2009年9月提供]
Related ID:
NCBI:5345
ENSEMBL:ENSG00000167711
HGNC:9075
UNIPROT:P08697
OMIM:613168
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5345
6
10
12395 bp
54.57
55
2
5
20
SERPINF2 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
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CDS(bp)
Protein
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
Organ
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Interactions
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Type
Name
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Status
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Link
No data available
References Literature
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No Data Found!
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