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中文人类
GABRA1 - Gamma-aminobutyric Acid Type A Receptor Subunit Alpha1
Alias:
EJM
ECA4
EJM5
DEE19
EIEE19
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这个基因编码一种γ-氨基丁酸（GABA）受体。GABA是哺乳动物大脑中的主要抑制性神经递质，它在GABA-A受体处发挥作用，这些受体是配体门控的氯通道。这些通道的氯传导可以被结合到GABA-A受体的药物如苯二氮卓类调节。GABA-A受体是五聚体，由几个亚基类别中的蛋白质组成：α、β、γ、δ和ρ。这个基因的突变导致青少年肌阵挛性癫痫和儿童失神癫痫4型。已经发现这个基因有多个转录变异体，编码相同的蛋白质。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
GABRA1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
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Mutations
Transcripts & Proteins
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Tile View
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Transcript
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CDS(bp)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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References Literature
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