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中文人类
SMG9 - SMG9 Nonsense Mediated MRNA Decay Factor
Alias:
HBMS
NEDITPO
C19orf61
F17127_1
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这个基因编码一个SMG1复合物的调节亚基，SMG1复合物在无义介导的mRNA降解（NMD）中起着关键作用。编码的蛋白质与SMG1复合物激酶支架蛋白结合，导致其激酶活性的抑制。这个基因的突变导致人类患者的一种多发性先天性异常综合征，以脑畸形、先天性心脏病和其他特征为特征。[RefSeq，2016年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SMG9 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
