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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
GATA1 - GATA Binding Protein 1
Alias:
GF1
GF-1
NFE1
XLTT
ERYF1
NF-E1
XLANP
XLTDA
GATA-1
HAEADA
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个属于GATA转录因子家族的蛋白质。该蛋白质在红细胞发育中扮演重要角色,通过调节胎儿血红蛋白向成人血红蛋白的切换。这个基因的突变与X连锁异常红细胞生成性贫血和血小板减少症相关。[由RefSeq,2008年7月提供]
Related ID:
NCBI:2623
ENSEMBL:ENSG00000102145
HGNC:4170
UNIPROT:P15976
OMIM:305371
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2623
1
6
7722 bp
42.75
244
14
21
19
GATA1 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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Residues
Reference
Score
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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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