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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
ACE2 - Angiotensin Converting Enzyme 2
Alias:
ACEH
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质属于血管紧张素转换酶家族的二肽羧基肽酶,与人类血管紧张素1转换酶具有很高的相似性。这种分泌蛋白质催化血管紧张素I裂解成血管紧张素1-9和血管紧张素II裂解成扩血管物质血管紧张素1-7。已知ACE2在各种人体器官中表达,其器官和细胞特异性的表达提示它可能在心血管和肾功能调节以及生育能力方面发挥作用。此外,编码的蛋白质是人类冠状病毒HCoV-NL63和严重急性呼吸系统综合症冠状病毒SARS-CoV和SARS-CoV-2的棘糖蛋白的功能受体,后者是2019年冠状病毒病(COVID-19)的病原体。已发现这个基因的多个剪接变异体,dACE2(或MIRb-ACE2)剪接变异体已被发现是干扰素诱导的。[RefSeq,2020年11月提供]
Related ID:
NCBI:59272
ENSEMBL:ENSG00000130234
HGNC:13557
UNIPROT:Q9BYF1
OMIM:300335
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
59272
6
18
89015 bp
92.46
27
--
52
67
ACE2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Status
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References Literature
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