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中文人类
RAPSN - Receptor Associated Protein Of The Synapse
Alias:
FADS
CMS11
CMS4C
FADS2
RAPSYN
RNF205
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这个基因编码一个蛋白质家族成员，这个家族是突触的受体相关蛋白质。编码的蛋白质包含一个保守的cAMP依赖的蛋白激酶磷酸化位点，并在将烟碱型乙酰胆碱受体与下面的突触后细胞骨架链接起来，可能通过直接与肌动蛋白或谱蛋白关联，从而在突触部位聚集和锚定烟碱型乙酰胆碱受体方面发挥关键作用。这个基因的突变可能在与突触后先天性肌无力综合征的发病机制有关。已经观察到了这个基因的替代剪接转录变异体，它们编码多种异构体。[由RefSeq，2011年4月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
RAPSN 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
