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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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GABBR1 - Gamma-aminobutyric Acid Type B Receptor Subunit 1
Alias:
GB1
GPRC3A
GABABR1
GABBR1-3
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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是哺乳动物中枢神经系统中的主要抑制性神经递质。这个受体作为与GABA(B)受体2的异源二聚体发挥作用。这个基因的缺陷可能导致脑障碍,如精神分裂症和癫痫。可选的剪接产生多种转录变异体,但其中一些变异体的完整长度尚未确定。[RefSeq,2016年1月提供]
Related ID:
NCBI:2550
ENSEMBL:ENSG00000204681
HGNC:4070
UNIPROT:Q9UBS5
OMIM:603540
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2550
12
23
30946 bp
108.32
53
2
14
20
GABBR1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
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Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
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Journal
Year
IF
No Data Found!
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