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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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人类
LTBP3 - Latent Transforming Growth Factor Beta Binding Protein 3
Alias:
DASS
LTBP2
LTBP-3
STHAG6
pp6425
GPHYSD3
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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与转化生长因子β(TGF-β)蛋白形成复合物,可能涉及其亚细胞定位。激活此复合物需要去除编码的结合蛋白。此蛋白质还可能在外胞浆基质中起到结构作用。已发现这个基因有三个转录变异体,编码不同的异构体。[由RefSeq,2010年1月提供]
Related ID:
NCBI:4054
ENSEMBL:ENSG00000168056
HGNC:6716
UNIPROT:Q9NS15
OMIM:602090
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4054
3
28
19801 bp
139.36
993
4
5
12
LTBP3 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
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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