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中文人类
PSEN2 - Presenilin 2
Alias:
AD4
PS2
AD3L
STM2
CMD1V
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阿尔茨海默病（AD）患者患有遗传形式的疾病，携带早老素蛋白（PSEN1或PSEN2）或淀粉样前体蛋白（APP）的突变。这些与疾病相关的突变导致较长形式的淀粉样β蛋白（AD大脑中发现的淀粉样沉积的主要成分）的产生增加。早老素被认为通过其对面部γ-分泌酶的影响来调节APP的加工，γ-分泌酶是一种切割APP的酶。此外，认为早老素参与Notch受体的切割，使得它们直接调节γ-分泌酶活性，或者它们自己作为蛋白酶酶发挥作用。已经识别出两种可变剪接转录变异体，它们编码不同形式的PSEN2。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PSEN2 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
