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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
CEBPE - CCAAT Enhancer Binding Protein Epsilon
Alias:
CRP1
SGD1
IMD108
C/EBP-epsilon
c/EBP epsilon
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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一种bZIP转录因子,可以以同源二聚体形式结合到特定的DNA调控区域。它还可以与相关的蛋白质CEBP-delta形成异源二聚体。编码的蛋白质可能对终端分化和定向粒细胞前体细胞的功能成熟是必需的。这个基因的突变与特异性颗粒缺陷有关,这是一种罕见的先天性障碍。这个基因的多个变异已经被描述,但是只有一个是全长的性质已经被确定。[由RefSeq,2008年7月提供]
Related ID:
NCBI:1053
ENSEMBL:ENSG00000092067
HGNC:1836
UNIPROT:Q15744
OMIM:600749
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1053
1
2
1950 bp
30.60
165
4
4
12
CEBPE 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
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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