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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
KLF1 - KLF Transcription Factor 1
Alias:
EKLF
EKLF/KLF1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个特定于造血的转录因子,能诱导成人β珠蛋白和其他红细胞基因的高水平表达。这个锌指蛋白结合到β血红蛋白启动子中的DNA序列CCACACCCT。这个基因的异质功能缺失突变导致主导的In(Lu)血液表型。[RefSeq,2009年10月提供]
Related ID:
NCBI:10661
ENSEMBL:ENSG00000105610
HGNC:6345
UNIPROT:Q13351
OMIM:600599
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10661
1
3
2780 bp
38.22
104
5
9
13
KLF1 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
Alphabetical
Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
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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