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中文人类
GDF6 - Growth Differentiation Factor 6
Alias:
KFM
KFS
KFS1
KFSL
SGM1
BMP13
CDMP2
SYNS4
BMP-13
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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。编码的前原蛋白在蛋白水解过程中被加工，生成二硫键连接的同源二聚体的各个亚基。这个蛋白对于四肢、颅骨和轴骨的正常骨形成和关节结构是必需的。这个基因的突变与Klippel-Feil综合征、小眼球症和Leber先天性夜盲症有关。[由RefSeq，2016年9月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
GDF6 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
