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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
TGIF1 - TGFB Induced Factor Homeobox 1
Alias:
HPE4
TGIF
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是异常同源域的TALE(三个氨基酸循环扩展)超类的一员。TALE同源盒蛋白是高度保守的转录调节因子。这个特定的同源域结合细胞视黄醇结合蛋白II启动子的先前特征的类视黄酸X受体响应元件。除了在其抑制9-顺式视黄酸依赖的RXR alpha对视酸响应元件的转录激活作用外,该蛋白质还是SMAD2的活跃转录共抑制物,可能参与发育过程中和成年动物的核信号传递。这个基因的突变与全前脑畸形4型有关,这是一种大脑的结构异常。在这个位置已经观察到了交替剪接,并且描述了编码不同异构体的多种剪接变体。[由RefSeq,2013年7月提供]
Related ID:
NCBI:7050
ENSEMBL:ENSG00000177426
HGNC:11776
UNIPROT:Q15583
OMIM:602630
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7050
13
3
47970 bp
43.01
127
7
8
7
TGIF1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
Length(nt)
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* This data comes from NCBI.
Gene Expression
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Name
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Status
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References Literature
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