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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
CASP1 - Caspase 1
Alias:
ICE
P45
IL1BC
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个属于半胱氨酸-天冬氨酸蛋白酶(caspase)家族的蛋白质。caspases的序列激活在细胞凋亡的执行阶段起着核心作用。caspases以不活跃的前酶形式存在,在保守的天冬氨酸残基处经过蛋白水解加工,产生两个亚基,大亚基和小亚基,它们二聚形成活性酶。这个基因通过其蛋白水解切割和激活白细胞介素-1的前体的能力而被鉴定,白细胞介素-1是一种参与炎症、败血性休克和伤口愈合等过程的细胞因子。这个基因已被证明能诱导细胞凋亡,并在各种发育阶段中发挥作用。研究小鼠中类似基因表明,它在亨廷顿病的病理发生中起作用。可变剪接导致编码不同异质体的转录变异体。[RefSeq,2012年3月提供]
Related ID:
NCBI:834
ENSEMBL:ENSG00000137752
HGNC:1499
UNIPROT:P29466
OMIM:147678
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
834
12
9
11244 bp
45.16
27
--
19
29
CASP1 Genetics information (-)
GRCh38
Sequence Homology
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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