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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
人类
GABRA5 - Gamma-aminobutyric Acid Type A Receptor Subunit Alpha5
Alias:
DEE79
EIEE79
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
伽马氨基丁酸(GABA)是哺乳动物大脑中的主要抑制性神经递质,它在伽马氨基丁酸A受体上发挥作用,这些受体是配体门控的氯通道。这些受体的氯传导可以被诸如苯二氮卓类药物等药剂调节,这些药物结合到伽马氨基丁酸A受体上。已经识别出至少16种不同的伽马氨基丁酸A受体亚型。已经描述了利用三种不同的可选非编码第一个外显子转录变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:2558
ENSEMBL:ENSG00000186297
HGNC:4079
UNIPROT:P31644
OMIM:137142
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2558
8
11
82490 bp
52.15
64
2
10
8
GABRA5 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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