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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
TGFBI - Transforming Growth Factor Beta Induced
Alias:
CSD
CDB1
CDG2
CSD1
CSD2
CSD3
EBMD
LCD1
BIGH3
CDGG1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个含有RGD的蛋白质,它可以结合I型、II型和IV型胶原蛋白。RGD基序存在于许多细胞外基质蛋白质中,调节细胞粘附,并作为几个整合素的配体识别序列。这个蛋白质在细胞-胶原蛋白相互作用中发挥作用,可能涉及软骨内骨形成。该蛋白质由转化生长因子-β诱导,并起到抑制细胞粘附的作用。这个基因的突变与多种角膜营养不良有关。[由RefSeq,2008年7月提供]
Related ID:
NCBI:7045
ENSEMBL:ENSG00000120708
HGNC:11771
UNIPROT:Q15582
OMIM:601692
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7045
1
17
34831 bp
74.68
132
9
12
35
TGFBI Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Type
Name
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CAS Number
Status
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Link
No data available
References Literature
Title
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Journal
Year
IF
No Data Found!
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