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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
SERPINE1 - Serpin Family E Member 1
Alias:
PAI
PAI1
PAI-1
PLANH1
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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)超家族的一员。这个成员是组织纤溶酶原激活剂(tPA)和尿激酶(uPA)的主要抑制剂,因此也是纤维蛋白溶解的抑制剂。该蛋白质还作为先天抗病毒免疫的成分发挥作用。这个基因的缺陷是导致纤溶酶原激活剂抑制剂-1(PAI-1)缺陷的原因,并且该基因产物的较高浓度与血栓形成倾向有关。[RefSeq,2020年8月提供]
Related ID:
NCBI:5054
ENSEMBL:ENSG00000106366
HGNC:8583
UNIPROT:P05121
OMIM:173360
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5054
12
9
12144 bp
45.06
105
2
7
36
SERPINE1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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Cell-specific RNA expression
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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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