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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
TGFB1 - Transforming Growth Factor Beta 1
Alias:
CED
LAP
DPD1
TGFB
IBDIMDE
TGFbeta
TGF-beta1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种分泌性的TGF-beta(转化生长因子-beta)超家族蛋白质的配体。这个家族的配体结合各种TGF-beta受体,导致SMAD家族转录因子的招募和激活,从而调控基因表达。编码的前原蛋白在蛋白水解过程中被加工成一种潜伏相关肽(LAP)和一种成熟肽,并以潜伏形式存在,由成熟肽同二聚体、LAP同二聚体和潜伏的TGF-beta结合蛋白组成,或者以活性形式存在,仅由成熟肽同二聚体组成。成熟肽还可以与其他TGFB家族成员形成异二聚体。这个编码的蛋白质调控细胞增殖、分化和生长,并可以调节其他生长因子的表达和激活,包括干扰素γ和肿瘤坏死因子α。这个基因在肿瘤细胞中经常上调,这个基因的突变导致Camurati-Engelmann病。[RefSeq,2016年8月提供]
Related ID:
NCBI:7040
ENSEMBL:ENSG00000105329
HGNC:11766
UNIPROT:P01137
OMIM:190180
Basic Information
NCBI
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Exons
Length
MW (kDa)
Mutations
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7040
2
7
23600 bp
44.33
274
5
16
48
TGFB1 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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