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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
小鼠
Nlrp5 - NLR family, pyrin domain containing 5
Alias:
Op1
Mater
Nalp5
PAN11
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码一个NACHT、富含亮氨酸重复和富含天冬氨酸结构域家族的成员。这个家族的成员在N端有一个天冬氨酸结构域,一个中央的NACHT结构域,和一个C端的富含亮氨酸重复结构域。这个基因编码一个母性效应因子,对于小鼠的早期胚胎发育是必不可少的。纯合子无效突变雌性动物是不育的,胚胎在第一次分裂后死亡。这个基因对于内质网重新分布和卵子中的钙稳态是必需的。此外,这个基因突变导致的卵子排出后,其线粒体定位异常,线粒体活性增加,导致线粒体损伤和早期胚胎致死。这个基因的假基因已经在染色体7和12上被发现。可变剪接导致多个转录变异体。[由RefSeq,2015年4月提供]
Related ID:
NCBI:23968
ENSEMBL:ENSMUSG00000015721
UNIPROT:Q9R1M5
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
23968
3
16
56035 bp
131.32
4
16
Nlrp5 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
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Protein
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No data available
* This data comes from NCBI.
Gene Expression
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