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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
CASP9 - Caspase 9
Alias:
MCH6
APAF3
APAF-3
PPP1R56
ICE-LAP6
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码半胱氨酸天冬氨酸蛋白酶家族的一个成员。半胱氨酸天冬氨酸蛋白酶的顺序激活在细胞凋亡的执行阶段起着核心作用。半胱氨酸天冬氨酸蛋白酶以无活性前体形式存在,通过保守的天冬氨酸残基进行蛋白水解处理,产生两个亚基,大亚基和小亚基,这两个亚基二聚化形成活性酶。这个蛋白质可以经历自蛋白水解和激活,由细胞色素c和凋亡肽酶激活因子1组成的蛋白复合物;这一步被认为是半胱氨酸天冬氨酸蛋白酶激活级联反应中的最早步骤。这个蛋白质被认为在凋亡中起着核心作用,并且是一个肿瘤抑制因子。替代剪接导致多个转录变体。[由RefSeq提供,2013年5月]
Related ID:
NCBI:842
ENSEMBL:ENSG00000132906
HGNC:1511
UNIPROT:P55211
OMIM:602234
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
842
6
9
33512 bp
46.28
29
--
6
26
CASP9 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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No data available
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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