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中文人类
GABRB3 - Gamma-aminobutyric Acid Type A Receptor Subunit Beta3
Alias:
ECA5
DEE43
EIEE43
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这个基因编码一个配体门控离子通道家族的成员。编码的蛋白质是作为γ-氨基丁酸受体的一种多亚基氯通道的亚单位，γ-氨基丁酸是哺乳动物神经系统的主要抑制性神经递质。这个基因位于染色体15的长臂上，与另外两个编码该家族相关亚单位的基因聚集在一起。这个基因可能与几种疾病的病理发生有关，包括Angelman综合征、Prader-Willi综合征、非综合征性口面部裂、癫痫和自闭症。已经描述了编码不同异构体的可变剪接转录变异体。[由RefSeq，2013年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
GABRB3 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
