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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
AVP - Arginine Vasopressin
Alias:
VP
ADH
ARVP
AVRP
AVP-NPII
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码加压素/催产素家族的成员,前proprotein在蛋白水解过程中被加工成多个蛋白质产物。这些产物包括神经肽激素精氨酸加压素,以及另外两种肽类,神经垂体素2和copeptin。精氨酸加压素是一种后叶激素,在视上核和下丘脑的室旁核中合成。与其载体蛋白神经垂体素2一起,它被包装成神经分泌囊泡,并通过轴突运输到神经垂体中的神经末梢,在那里被储存或分泌到血流中。前体被认为在沿轴突运输到后叶的过程中被激活。精氨酸加压素通过增强酸碱运输系统的pH调节作用作为生长因子发挥作用。它对肾脏具有直接的利尿作用,并导致外周血管的血管收缩。这种激素在分娩和哺乳期间还可以收缩平滑肌。它还与认知、耐受性、适应和复杂的性行为和母性行为以及水排泄和心血管功能的调节有关。这个基因的突变导致常染色体显性神经垂体糖尿病(ADNDI)。这个基因与相关的氧催产素基因一起位于染色体20上。[由RefSeq,2015年11月提供]
Related ID:
NCBI:551
ENSEMBL:ENSG00000101200
HGNC:894
UNIPROT:P01185
OMIM:192340
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
551
1
3
2169 bp
17.32
61
2
8
39
AVP 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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Name
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CAS Number
Status
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Link
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References Literature
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