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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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人类
GABRG2 - Gamma-aminobutyric Acid Type A Receptor Subunit Gamma2
Alias:
CAE2
ECA2
FEB8
DEE74
EIEE74
GEFSP3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
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受体上发挥作用,这些受体是配体门控的氯通道。GABA-A受体是五聚体,由来自几个亚基类的蛋白质组成:α、β、γ、δ和ρ。这个基因的突变与癫痫和发热性癫痫发作有关。已经在这个基因中识别出多种编码不同异型的转录变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:2566
ENSEMBL:ENSG00000113327
HGNC:4087
UNIPROT:P18507
OMIM:137164
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2566
15
10
88075 bp
55.19
547
8
19
17
GABRG2 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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