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中文人类
PSENEN - Presenilin Enhancer, Gamma-secretase Subunit
Alias:
PEN2
PEN-2
MDS033
ACNINV2
MSTP064
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普式酶(Presenilins)是γ-分泌酶蛋白复合物的组成部分，对于某些类型I跨膜蛋白(如Notch蛋白和β-淀粉样前体蛋白)的膜内加工是必需的。Notch受体的信号传导调节广泛的发育细胞命运。β-淀粉样前体蛋白的加工产生神经毒性淀粉样β肽，这是与阿尔茨海默病相关的老年斑的主要成分。该基因编码一种蛋白质，该蛋白质是Notch通路信号传导所必需的，以及γ-分泌酶的活性和积累所必需的。导致该基因的单倍不足突变的突变导致家族性反痤疮-2(ACNINV2)。可变剪接导致多个转录变异体。[由RefSeq，2013年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PSENEN 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
