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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
VAMP2 - Vesicle Associated Membrane Protein 2
Alias:
SYB2
VAMP-2
NEDHAHM
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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是囊泡关联膜蛋白(VAMP)/突触素家族的一员。突触素/VAMPs、突触素、和25kD的突触粒相关蛋白SNAP25是参与突触囊泡与突触前膜的对接和/或融合的主要蛋白质复合物成分。这个基因被认为参与神经递质释放的对接和融合之间的步骤。该蛋白质与突触素、突触粒相关蛋白25kD和突触囊蛋白形成稳定的复合物。它还可以与突触磷脂酸形成不同的复合物。由于其地图位置和因为它编码一种已经与FIMG发病机制有关的突触囊泡蛋白类型,所以这个基因可能是家族性婴儿肌无力(FIMG)的候选基因。[由RefSeq,2008年7月提供]
Related ID:
NCBI:6844
ENSEMBL:ENSG00000220205
HGNC:12643
UNIPROT:P63027
OMIM:185881
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
6844
2
5
3802 bp
12.66
24
1
6
16
VAMP2 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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