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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
Gabrg2 - gamma-aminobutyric acid (GABA) A receptor, subunit gamma 2
Alias:
gamma2
GABAA-R
Gabrg-2
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
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这个基因编码一种γ-氨基丁酸(GABA)-A受体亚基,属于配体门控离子通道家族。GABA是成年中枢神经系统中的主要抑制性神经递质,而在发育过程中表现为兴奋性功能。GABA-A受体是五聚体,由来自几个亚基类别的蛋白质组成:α、β、γ、δ和ρ。这个基因编码哺乳动物中三种γ亚基之一,含有苯二氮类药物的结合位点。这个基因的几个突变与癫痫发作有关,遗传敲低与焦虑行为有关。可变剪接导致多个转录变异体。[由RefSeq,2013年1月提供]
Related ID:
NCBI:14406
ENSEMBL:ENSMUSG00000020436
UNIPROT:P22723
Basic Information
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14406
6
10
90668 bp
55.10
19
13
Gabrg2 Genetics information (-)
GRCm39
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* This data comes from NCBI.
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