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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
CASP3 - Caspase 3
Alias:
CPP32
SCA-1
CPP32B
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一种半胱氨酸-天冬氨酸蛋白酶,在细胞凋亡的执行阶段发挥核心作用。编码的蛋白质切割并失活多(ADP-核糖)聚合酶,同时切割并激活固醇调节元件结合蛋白以及caspases 6, 7和9。这种蛋白质本身被caspases 8, 9和10加工。它是切割淀粉样蛋白-beta 4A前体蛋白的主要半胱天冬酶,这与阿尔茨海默病的神经元死亡有关。[由RefSeq,2017年8月提供]
Related ID:
NCBI:836
ENSEMBL:ENSG00000164305
HGNC:1504
UNIPROT:P42574
OMIM:600636
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
836
13
8
21752 bp
31.61
11
--
15
32
CASP3 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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