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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
Lmnb2 - lamin B2
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码核层蛋白成分,为核膜提供结构框架。发现这个基因的缺陷会导致神经元形状异常。这个基因座代表两个B型层蛋白基因之一,这两个基因在神经元发育中可能部分但并非完全功能冗余。在角质细胞中丧失两个B型层蛋白基因会导致鱼鳞病和皮肤屏障缺陷,导致脱水。可变转录起始和剪接导致多个转录变异体和蛋白质异构体,包括具有较短N端杆状结构域的异构体,该异构体可能在精子发生过程中的核膜重构中发挥作用。一个相关的假基因位于染色体5上。[RefSeq,2017年9月提供]
Related ID:
NCBI:16907
ENSEMBL:ENSMUSG00000062075
UNIPROT:P21619
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
16907
2
12
16883 bp
67.32
12
16
Lmnb2 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
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Protein
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Type
Name
MGI
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References Literature
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IF
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