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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
Gabrb3 - gamma-aminobutyric acid (GABA) A receptor, subunit beta 3
Alias:
Cp1
beta3
Gabrb-3
A230092K12Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
调节突触后膜电位的高能氨基酸A受体活性和突触门控离子通道活性。参与GABA门控氯离子通道活性。涉及几个过程,包括氯离子跨膜转运;内耳发育;和神经系统发育。在几个过程的上游或内部发挥作用,包括细胞对锌离子的反应;昼夜睡眠/觉醒周期,快速眼动睡眠;和学习或记忆。位于GABA能突触和质膜上。是GABAA受体复合物的一部分。在细胞表面是活跃的。在几个结构中表达,包括中枢神经系统;眼睛;颌;和嗅觉上皮。用于研究自闭症谱系障碍。这个基因的人类同源物与儿童失神癫痫和发育性和癫痫性脑病43有关。与人类GABRB3(γ-氨基丁酸A受体β3亚单位)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:14402
ENSEMBL:ENSMUSG00000033676
UNIPROT:P63080
Basic Information
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Length
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14402
2
9
238285 bp
54.17
11
13
Gabrb3 Genetics information (+)
GRCm39
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* This data comes from NCBI.
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