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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
Gabra1 - gamma-aminobutyric acid (GABA) A receptor, subunit alpha 1
Alias:
Gabra-1
GABAA-alpha1
GABAAR-alpha1
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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传输器门控离子通道活性。参与GABA门控氯离子通道活动。参与抑制性突触组装和突触后膜电位的调节。位于GABA能突触和质膜上。在消化系统;中枢神经系统;和眼睛中表达。用于研究特发性全面癫痫。这个基因的人类同源物与发育性和癫痫性脑病19和特发性全面癫痫13有关。与人类的GABRA1(氨基丁酸A型受体亚基α1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:14394
ENSEMBL:ENSMUSG00000010803
UNIPROT:P62812
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
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Reference
14394
4
10
52128 bp
51.75
20
16
Gabra1 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
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