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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
KLKB1 - Kallikrein B1
Alias:
PKK
PPK
KLK3
PKKD
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种糖蛋白,参与血液凝固、纤维蛋白溶解、激肽生成和炎症的表面依赖激活。在血浆中,与高分子量激肽原以非共价复合物的形式存在的编码前原蛋白经历由激活的凝血因子XII介导的蛋白水解加工,生成一个由重链和轻链组成的二硫化物连接的异源二聚丝氨酸蛋白酶。这个基因中的某些突变导致前激肽原缺乏。可选的剪接导致多个转录变异体,它们编码不同的异构体。[由RefSeq,2016年1月提供]
Related ID:
NCBI:3818
ENSEMBL:ENSG00000164344
HGNC:6371
UNIPROT:P03952
OMIM:229000
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3818
9
15
47619 bp
71.34
167
2
7
13
KLKB1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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