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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
PYCARD - PYD And CARD Domain Containing
Alias:
ASC
TMS
TMS1
CARD5
TMS-1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个由两个蛋白质相互作用结构域组成的衔接蛋白:一个N端的PYRIN-PAAD-DAPIN结构域(PYD)和一个C端的caspase招募结构域(CARD)。PYD和CARD结构域是六股螺旋死亡结构域折叠超家族的成员,通过激活caspase在炎症和凋亡信号通路中调节大型信号复合体的组装。在正常细胞中,这种蛋白位于细胞质中;然而,在经历凋亡的细胞中,它会在核周附近形成球状聚集物。已发现这个基因的两个转录变异体编码不同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:29108
ENSEMBL:ENSG00000103490
HGNC:16608
UNIPROT:Q9ULZ3
OMIM:606838
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
29108
2
3
1275 bp
21.63
4
--
12
60
PYCARD 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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Status
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