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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
CASP5 - Caspase 5
Alias:
ICH-3
ICEREL-III
ICE(rel)III
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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(caspase)家族的成员。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。过度表达这种酶的活性形式会在成纤维细胞中诱导凋亡。Max是Myc/Max/Mad转录调控网络的重要成分,该网络对细胞生长、分化和凋亡至关重要,该蛋白可以切割Max;这个过程需要Fas介导的Max脱磷酸化。这个基因的表达受到干扰素-γ和脂多糖的调节。已经在这个基因中鉴定出可变剪接的转录变异体。[RefSeq,2010年8月提供]
Related ID:
NCBI:838
ENSEMBL:ENSG00000137757
HGNC:1506
UNIPROT:P51878
OMIM:602665
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
838
4
10
28926 bp
49.74
18
--
12
10
CASP5 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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References Literature
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