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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
BHLHE23 - Basic Helix-loop-helix Family Member E23
Alias:
BETA4
BHLHB4
Beta3b
bA305P22.3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个基本的螺旋-环-螺旋转录因子家族的成员。这个家族的成员包含两个高度保守且功能上截然不同的结构域:基本结构域靶向序列特异性的DNA结合,而螺旋-环-螺旋结构域促进蛋白质相互作用。研究小鼠中一个相关基因表明,编码的蛋白质可能在胰腺和大脑中作为转录抑制因子发挥作用,并且它对于正常的视网膜功能是必需的。[RefSeq, 2013年5月提供]
Related ID:
NCBI:128408
ENSEMBL:ENSG00000125533
HGNC:16093
UNIPROT:Q8NDY6
OMIM:609331
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
128408
1
1
1038 bp
23.66
6
--
4
3
BHLHE23 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
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Cell-specific RNA expression
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Interactions
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Acting
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Type
Name
MGI
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Status
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Link
No data available
References Literature
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No Data Found!
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