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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
Syngap1 - synaptic Ras GTPase activating protein 1 homolog (rat)
Alias:
Gm1963
Syngap
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码一种Ras GTP酶激活蛋白,是N-甲基-D-天门冬氨酸受体复合体的成员。该蛋白的N端结构域包含一个Ras-GAP结构域,一个pleckstrin同源结构域,和一个可能参与结合钙和磷脂的C2结构域。C端结构域由一个十组组氨酸重复区域,丝氨酸和酪氨酸磷酸化位点,和一个与突触后支架蛋白相互作用所需的T/SXV基序组成。编码的蛋白负调控Ras,Rap和α-氨基-3-羟基-5-甲基-4-异恶唑丙酸受体在突触后膜上的转运,以调节突触可塑性和神经元的内环境稳定。纯合无效突变导致胚胎后期早期死亡,而异质性突变小鼠表现出多种表型,包括学习和记忆缺陷,过度活动和听觉癫痫发作。[由RefSeq,2016年11月提供]
Related ID:
NCBI:240057
ENSEMBL:ENSMUSG00000067629
UNIPROT:F6SEU4
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
240057
30
19
31223 bp
148.24
14
4
Syngap1 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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