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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
APP - Amyloid Beta Precursor Protein
Alias:
AAA
AD1
PN2
ABPP
APPI
CVAP
ABETA
PN-II
preA4
CTFgamma
alpha-sAPP
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个细胞表面受体和跨膜前体蛋白,该蛋白被分泌酶切割形成多种肽。其中一些肽被分泌出来,可以结合乙酰转移酶复合物APBB1/TIP60,促进转录激活,而其他肽形成在阿尔茨海默病患者大脑中发现的淀粉样斑块的蛋白质基础。此外,两种肽是具有抗菌活性的肽,已被证明具有杀菌抗真菌活性。这个基因的突变与常染色体显性阿尔茨海默病和脑血管淀粉样变性(脑淀粉样血管病)有关。已发现这个基因有多个转录变异体,编码几种不同的异构体。[RefSeq,2014年8月提供]
Related ID:
NCBI:351
ENSEMBL:ENSG00000142192
HGNC:620
UNIPROT:P05067
OMIM:104760
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
351
11
18
290579 bp
86.94
428
4
47
170
APP Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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