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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
MSTN - Myostatin
Alias:
GDF8
MSLHP
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Description
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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-β)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。编码的前原原蛋白经过蛋白水解加工,生成二硫键连接的同源二聚体的各个亚基。这个蛋白负调控骨骼肌细胞的增殖和分化。这个基因的突变与人类和其他哺乳动物骨骼肌质量增加有关。[RefSeq,2016年7月提供]
Related ID:
NCBI:2660
ENSEMBL:ENSG00000138379
HGNC:4223
UNIPROT:O14793
OMIM:601788
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2660
1
3
7030 bp
42.75
69
2
23
10
MSTN 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
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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
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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