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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
GABPB1 - GA Binding Protein Transcription Factor Subunit Beta 1
Alias:
E4TF1
GABPB
BABPB2
E4TF1B
GABPB2
NRF2B1
NRF2B2
GABPB-1
E4TF1-47
E4TF1-53
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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GA结合蛋白转录因子,β亚基。这个蛋白质与α亚基形成四聚体复合物,并刺激目标基因的转录。编码的蛋白质可能涉及细胞色素氧化酶表达的激活和线粒体功能的核控制。小鼠中类似蛋白质的晶体结构已被解决为一个三元蛋白质复合物。已经发现了这个基因的多个转录变异体,它们编码不同的异构体。[RefSeq,2008年7月提供]
Related ID:
NCBI:2553
ENSEMBL:ENSG00000104064
HGNC:4074
UNIPROT:Q06547
OMIM:600610
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2553
14
9
79810 bp
42.48
3
--
3
10
GABPB1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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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
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Cell-specific RNA expression
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Type
Name
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CAS Number
Status
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Link
No data available
References Literature
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Journal
Year
IF
No Data Found!
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