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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
小鼠
Bace1 - beta-site APP cleaving enzyme 1
Alias:
ASP2
Bace
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
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。这个基因的纯合子敲除小鼠表现出广泛的神经系统缺陷、生长迟缓、代谢异常和新生儿死亡率增加。[RefSeq, Nov 2015提供]
Related ID:
NCBI:23821
ENSEMBL:ENSMUSG00000032086
UNIPROT:P56818
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
23821
5
9
25817 bp
55.75
21
21
Bace1 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Type
Name
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