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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
SNAP23 - Synaptosome Associated Protein 23
Alias:
SNAP-23
SNAP23A
SNAP23B
HsT17016
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
囊泡运输的特异性部分受到一种称为突触收缩蛋白/VAMP的囊泡关联膜蛋白与一种称为突触素的目标囊泡膜蛋白的相互作用调节。这些蛋白质与25kDa的突触体关联蛋白(SNAP25)共同形成一个作为通用膜融合机制结合位的复合物。据信,尽管不是所有的细胞,但在大多数细胞中,突触收缩蛋白/VAMP和突触素都涉及囊泡运输。SNAP25几乎专门存在于大脑中,这表明存在一种几乎普遍表达的SNAP25同源物,以促进其他组织中运输囊泡/目标膜的融合。这个基因编码的蛋白质在结构和功能上与SNAP25相似,并紧密结合多个突触收缩蛋白/VAMPs。它是通用膜融合机制的高亲和力受体的一个基本组成部分,并是运输囊泡停泊和融合的重要调节剂。已描述了编码此基因的不同蛋白质异形的两种替代转录变异体。[RefSeq,2008年7月提供]
Related ID:
NCBI:8773
ENSEMBL:ENSG00000092531
HGNC:11131
UNIPROT:O00161
OMIM:602534
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
8773
8
8
41930 bp
23.35
7
--
11
20
SNAP23 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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