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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
TRIP4 - Thyroid Hormone Receptor Interactor 4
Alias:
ASC1
ASC-1
MDCDC
SMABF1
ZC2HC5
HsT17391
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码四聚核激活信号整合子1(ASC-1)复合物的亚基,该复合物与转录辅激活子、核受体和基本的转录因子结合,以促进核受体介导的转录。这种蛋白质位于细胞核中,并包含一个E1A型的锌指结构域,该结构域与转录辅激活子和配体结合的核受体(如甲状腺激素受体和类视黄醇X受体α)相互作用,但不与糖皮质激素受体相互作用。这个基因的突变与伴有先天性骨折的脊髓肌营养不良1(SMABF1)有关。[RefSeq,2016年4月提供]
Related ID:
NCBI:9325
ENSEMBL:ENSG00000103671
HGNC:12310
UNIPROT:Q15650
OMIM:604501
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9325
2
13
67468 bp
66.15
195
3
3
20
TRIP4 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Cell-specific RNA expression
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Type
Name
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No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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Year
IF
No Data Found!
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