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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
小鼠
Rapsn - receptor-associated protein of the synapse
Alias:
Raps
43kDa
Nraps
rapsyn
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
乙酰胆碱受体结合活性的激活剂。在神经元凋亡过程的正向调节中起上游或内部作用。位于高尔基体、神经肌肉连接和质膜中。在突触后特化膜中活跃。在几个结构中表达,包括中枢神经系统、胚胎间充质、前肢芽、肢体和骨骼肌。用于研究先天性肌无力综合征11。这个基因的人类同源物与先天性肌无力综合征11和胎儿无力畸形序列综合征2有关。与人类突触相关蛋白(RAPSN)的正交物相似。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:19400
ENSEMBL:ENSMUSG00000002104
UNIPROT:P12672
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
19400
3
8
10265 bp
46.39
6
4
Rapsn Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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Length(nt)
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CDS(bp)
Protein
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* This data comes from NCBI.
Gene Expression
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Name
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