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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
BACE1 - Beta-secretase 1
Alias:
ASP2
BACE
HSPC104
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码肽酶A1家族的天冬氨酸蛋白酶成员。可变剪接产生多种转录子变异体,其中至少一种编码前原蛋白,该前原蛋白在蛋白水解过程中被加工成成熟的蛋白酶。这种跨膜蛋白酶催化了从淀粉样前体蛋白形成淀粉样β肽的第一步。淀粉样β肽是淀粉样β斑块的主要组成成分,这些斑块在人类阿尔茨海默病患者的大脑中积累。[由RefSeq,2015年11月提供]
Related ID:
NCBI:23621
ENSEMBL:ENSG00000186318
HGNC:933
UNIPROT:P56817
OMIM:604252
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23621
7
9
30559 bp
55.76
16
--
21
39
BACE1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Mutations
No data available
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Name
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References Literature
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No Data Found!
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