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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
BACE2 - Beta-secretase 2
Alias:
ASP1
BAE2
DRAP
AEPLC
ALP56
ASP21
CDA13
CEAP1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个整合膜糖蛋白,作为天冬氨酸蛋白酶发挥作用。编码的蛋白质将淀粉样前体蛋白切割成淀粉样β肽,这是阿尔茨海默病和唐氏综合症病因学中的一个关键步骤。该蛋白质前体进一步被加工成活性成熟的肽。可选的剪接导致多个转录变异体。[由RefSeq,2013年7月提供]
Related ID:
NCBI:25825
ENSEMBL:ENSG00000182240
HGNC:934
UNIPROT:Q9Y5Z0
OMIM:605668
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
25825
4
9
114371 bp
56.18
26
--
9
19
BACE2 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
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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
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Link
No data available
References Literature
Title
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Journal
Year
IF
No Data Found!
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