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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
Psen2 - presenilin 2
Alias:
PS2
Ad4h
Alg3
PS-2
STM2
ALG-3
Psnl2
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码一个早老素家族的成员。早老素是γ-分泌酶复合物的催化成分,通过切割I型跨膜蛋白包括Notch受体和淀粉样前体蛋白来调节关键的细胞过程。编码的蛋白质含有八个跨膜结构域,定位在内质网中,在那里它可能参与钙稳态。在γ-分泌酶复合物组装后,编码的蛋白质被切割成N-和C-端片段,活化的复合物从内质网释放。这个基因的失活在小鼠阿尔茨海默病模型中导致突触功能受损。已经观察到了这个基因的可变剪接转录变异。[由RefSeq,2011年4月提供]
Related ID:
NCBI:19165
ENSEMBL:ENSMUSG00000010609
UNIPROT:Q61144
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
19165
4
11
36462 bp
49.98
8
16
Psen2 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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