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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
NLRP1 - NLR Family Pyrin Domain Containing 1
Alias:
NAC
JRRP
MSPC
AIADK
CARD7
CIDED
NALP1
SLEV1
DEFCAP
PP1044
VAMAS1
CLR17.1
DEFCAP-L/S
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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Ced-4家族的一个成员,该家族成员含有Caspase招募结构域(CARD),已知是程序性细胞死亡的关键介质。编码的蛋白质含有一个独特的N-末端pyrin样基序,可能涉及蛋白质-蛋白质相互作用。该蛋白质与caspase 2强烈相互作用,与caspase 9弱相互作用。过表达这个基因被证明可以在细胞中诱导凋亡。已经发现这个基因有多个可变剪接转录变异体,编码不同的异构体,但一些变异体的生物学有效性尚未确定。[由RefSeq,2008年7月提供]
Related ID:
NCBI:22861
ENSEMBL:ENSG00000091592
HGNC:14374
UNIPROT:Q9C000
OMIM:606636
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
22861
5
17
83114 bp
165.87
703
4
9
48
NLRP1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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#
Transcript
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No data available
* This data comes from NCBI.
Gene Expression
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Name
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