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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
KNG1 - Kininogen 1
Alias:
BK
HK
BDK
KNG
HAE6
HMWK
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因通过选择性剪接产生两种不同的蛋白质-高分子量激肽原(HMWK)和低分子量激肽原(LMWK)。HMWK对于血液凝固和激肽-激肽系统的组装是必需的。此外,缓激肽,一种导致许多生理效应的肽,是从HMWK中释放出来的。缓激肽还具有抗菌和抗真菌活性,作为抗菌肽发挥作用。与HMWK不同,LMWK不参与血液凝固。严重急性呼吸系统综合症冠状病毒2感染(SARS-CoV-2)会降低或消耗血管紧张素转换酶2(ACE2),导致脱-Arg(9)-缓激肽水平的增加,这是缓激肽的生物活性代谢产物,与肺损伤和炎症有关。已发现这个基因有三个转录变异体,编码不同的异构体。[RefSeq,2020年9月提供]
Related ID:
NCBI:3827
ENSEMBL:ENSG00000113889
HGNC:6383
UNIPROT:P01042
OMIM:612358
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
3827
3
10
27052 bp
71.96
46
3
6
28
KNG1 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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