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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
CBX3 - Chromobox 3
Alias:
HECH
HP1-GAMMA
HP1Hs-gamma
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
在核膜上,核层蛋白和异染色质与内核膜相邻。这个基因编码的蛋白质与DNA结合,是异染色质的组成部分。这个蛋白质还可以结合lamin B受体,这是一种在内核膜中发现的整合膜蛋白。这个编码蛋白质的双重结合功能可能解释了异染色质与内核膜的关系。这个蛋白质还可以结合组蛋白H3尾部的Lys-9位点的甲基化。这个蛋白质也被招募到紫外线诱导的DNA损伤和双链断裂的位置。已经发现这个基因有两个转录变异体,它们编码相同的蛋白质,但在5’UTR不同。[RefSeq提供,2011年3月]
Related ID:
NCBI:11335
ENSEMBL:ENSG00000122565
HGNC:1553
UNIPROT:Q13185
OMIM:604477
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
11335
4
6
12165 bp
20.81
2
--
8
39
CBX3 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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