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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
LTBP1 - Latent Transforming Growth Factor Beta Binding Protein 1
Alias:
ARCL2E
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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属于潜伏的TGF-beta结合蛋白(LTBPs)家族。TGF-betas的分泌和激活受到它们与潜伏期相关蛋白和潜伏的TGF-beta结合蛋白的关联的调节。这个基因的产品将转化生长因子β的潜伏复合物定位到细胞外基质中,在那里潜伏的细胞因子随后通过几种不同的机制被激活。已经识别出编码不同异构体的可变剪接转录变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:4052
ENSEMBL:ENSG00000049323
HGNC:6714
UNIPROT:Q14766
OMIM:150390
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4052
65
34
452557 bp
186.80
118
2
10
25
LTBP1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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Score
Mutations
No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Name
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Status
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References Literature
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