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中文人类
GABRD - Gamma-aminobutyric Acid Type A Receptor Subunit Delta
Alias:
EJM7
EIG10
GEFSP5
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γ-氨基丁酸（GABA）是哺乳动物大脑中主要的抑制性神经递质，它作用于GABA-A受体，这是一种配体门控氯离子通道。这些通道的氯离子通透性可以通过与GABA-A受体结合的苯二氮卓类药物等物质进行调节。GABA-A受体通常是五聚体，有五种亚基：α、β、γ、δ和ρ。此基因编码δ亚基。此基因的突变已被发现与泛发性癫痫伴热性惊厥，类型5的易感性有关。此基因存在可变剪接转录变体，但其生物学有效性尚未确定。[由RefSeq提供，2008年7月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
GABRD Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
