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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
Gabrb2 - gamma-aminobutyric acid (GABA) A receptor, subunit beta 2
Alias:
Gabrab2
Gabrb-2
C030002O17Rik
C030021G16Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
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References Literature
调节突触后膜电位的传输器门控离子通道活性。参与GABA门控氯离子通道活动。涉及几个过程,包括内耳发育;神经系统发育;以及声音的感知。位于质膜上。在GABA能突触中活跃。是突触后特化膜的整合成分。在几个结构中表达,包括消化系统;心脏;整饰系统;神经系统;和感觉器官。这个基因的人类同源物与自闭症障碍和发育性和癫痫性脑病92有关。与人类GABRB2(GABAA型受体β2亚单位)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:14401
ENSEMBL:ENSMUSG00000007653
UNIPROT:P63137
Basic Information
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14401
6
9
213077 bp
59.20
6
8
Gabrb2 Genetics information (+)
GRCm39
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* This data comes from NCBI.
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