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中文人类
GDF3 - Growth Differentiation Factor 3
Alias:
KFS3
MCOP7
MCOPCB6
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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。这个蛋白在人类患者的眼和骨骼发育中起作用。这个基因的突变与人类患者的微小眼、视神经萎缩和骨骼异常有关。[RefSeq，2016年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
GDF3 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
