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中文人类
TGFBR1 - Transforming Growth Factor Beta Receptor 1
Alias:
AAT5
ALK5
ESS1
LDS1
MSSE
SKR4
TBRI
ALK-5
LDS1A
LDS2A
TBR-i
TGFR-1
ACVRLK4
tbetaR-I
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这个基因编码的蛋白质与II型TGF-β受体形成异源复合物，当与TGF-β结合时，将TGF-β信号从细胞表面传递到细胞质。编码的蛋白质是一种丝氨酸/苏氨酸蛋白激酶。这个基因的突变与Loeys-Dietz主动脉瘤综合征（LDAS）有关。已发现这个基因有多种转录变异体，编码不同的异构体。[RefSeq，2008年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
TGFBR1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
