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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
CASP10 - Caspase 10
Alias:
MCH4
ALPS2
FLICE2
FLICE-2
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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作为无活性的前酶存在,在保守的天冬氨酸残基处经历蛋白水解加工,产生两个亚基,大的和小的,它们二聚形成活性酶。这个蛋白质切割并激活caspase 3和7,并且这个蛋白质本身被caspase 8加工。这个基因的突变与IIA型自身免疫性淋巴增生综合症、非霍奇金淋巴瘤和胃癌有关。这个基因的不同剪接转录变异体已经描述过,它们编码不同的异构体。[RefSeq,2011年4月提供]
Related ID:
NCBI:843
ENSEMBL:ENSG00000003400
HGNC:1500
UNIPROT:Q92851
OMIM:601762
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
843
9
10
46266 bp
58.95
419
4
--
24
CASP10 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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