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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
SYN3 - Synapsin III
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是synapsin基因家族的成员。synapsins编码与突触囊泡细胞质表面相关的神经元磷酸蛋白。家族成员以共同的蛋白质结构域为特征,并与突触形成和神经递质释放的调节有关,提示在几种神经精神疾病中可能具有潜在作用。这个基因编码的蛋白质共享synapsin家族结构域模型,具有高度保守的结构域A、C和E。该蛋白质包含一个位于结构域C和E之间的独特结构域J。根据这个基因定位在22q12.3,一个可能的精神分裂症易感位点,以及synapsins的已建立的神经生物学作用,这个家族成员可能代表精神分裂症的候选基因。TIMP3基因位于这个基因的一个内含子内,并反向转录。这个基因的可变剪接产生编码不同异构体的多种剪接变体。[RefSeq,2008年10月提供]
Related ID:
NCBI:8224
ENSEMBL:ENSG00000185666
HGNC:11496
UNIPROT:O14994
OMIM:602705
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
8224
18
14
550562 bp
63.30
273
2
5
5
SYN3 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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