Log In|Sign Up
中文人类
PSEN1 - Presenilin 1
Alias:
AD3
FAD
PS1
PS-1
S182
PSNL1
ACNINV3
Favorite
阿尔茨海默病（AD）患者患有遗传形式的疾病，其携带早老素蛋白（PSEN1；PSEN2）或淀粉样前体蛋白（APP）中的突变。这些与疾病相关的突变导致较长形式的淀粉样β（AD大脑中发现的淀粉样沉积物的主要成分）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，从而直接调节γ-分泌酶活性或自身作为蛋白酶酶。已为此基因识别出编码不同异构体的几种可变剪接转录变异体，但仅确定了其中一些的全长度性质。[RefSeq，2008年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PSEN1 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
