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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
CASP14 - Caspase 14
Alias:
ARCI12
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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。已证实这个caspase可以在体外被caspase 8和caspase 10加工激活,在体内被抗Fas激动剂抗体或TNF相关的凋亡诱导配体激活。这个caspase的表达和加工可能涉及角质细胞终末分化,这对于皮肤屏障的形成非常重要。[由RefSeq,2008年7月提供]
Related ID:
NCBI:23581
ENSEMBL:ENSG00000105141
HGNC:1502
UNIPROT:P31944
OMIM:605848
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23581
2
7
8814 bp
27.68
40
1
4
16
CASP14 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Related Mouse Models
Type
Name
MGI
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Mutations
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CAS Number
Status
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Link
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References Literature
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IF
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