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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
TRPS1 - Transcriptional Repressor GATA Binding 1
Alias:
GC79
LGCR
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个转录因子,可以抑制GATA调控的基因,并与动力蛋白轻链蛋白结合。编码蛋白与动力蛋白轻链蛋白的结合会影响其与GATA共识序列的结合,从而抑制其转录活性。这个基因的缺陷是导致毛鼻爪综合症(TRPS)类型I-III的原因。[由RefSeq,2008年7月提供]
Related ID:
NCBI:7227
ENSEMBL:ENSG00000104447
HGNC:12340
UNIPROT:Q9UHF7
OMIM:604386
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7227
4
7
260480 bp
141.52
473
4
6
21
TRPS1 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
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Type
Name
MGI
Strain of Origin
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Mutations
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Name
CAS Number
Status
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Link
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References Literature
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