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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
STXBP5 - Syntaxin Binding Protein 5
Alias:
LGL3
LLGL3
Nbla04300
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
Syntaxin 1是7S和20S SNARE复合体的组成部分,参与突触囊泡与突触前质膜的对接和融合。该基因编码一个与syntaxin 1结合的蛋白质。在大鼠中,一种类似的蛋白质使syntaxin 1从Munc18/n-Sec1/rbSec1复合体中解离,形成10S复合体,这是一种可以转化为7S SNARE复合体的中间体。因此,该蛋白质被认为通过刺激SNARE复合体的形成参与神经递质的释放。已经识别了编码不同异构体的可变剪接转录变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:134957
ENSEMBL:ENSG00000164506
HGNC:19665
UNIPROT:Q5T5C0
OMIM:604586
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
134957
13
28
186057 bp
127.57
48
--
7
9
STXBP5 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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