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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
ABTB1 - Ankyrin Repeat And BTB Domain Containing 1
Alias:
BPOZ
BTB3
BTBD21
EF1ABP
PP2259
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个具有锚蛋白重复区域和两个BTB/POZ结构域的蛋白质,被认为参与蛋白质-蛋白质相互作用。这个基因的表达受到磷酸酶和张力蛋白同源物的激活,这是一种肿瘤抑制因子。交替剪接导致三种转录变异体。[RefSeq,2010年3月提供]
Related ID:
NCBI:80325
ENSEMBL:ENSG00000114626
HGNC:18275
UNIPROT:Q969K4
OMIM:608308
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
80325
5
12
7975 bp
53.98
34
--
3
5
ABTB1 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
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Alphabetical
Cell-specific RNA expression
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Interactions
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Acting
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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Journal
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IF
No Data Found!
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