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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
PHC1 - Polyhomeotic Homolog 1
Alias:
EDR1
HPH1
RAE28
MCPH11
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是果蝇 polyhomeotic 基因的同源基因,属于 Polycomb 基因家族。基因产物是含有 EDR2 和脊椎动物 Polycomb 蛋白 BMH1 的一个多蛋白复合物的组成部分。基因产物、EDR2 蛋白和果蝇 polyhomeotic 蛋白具有两个高度保守的结构域,称为同源结构域 I 和 II。这些结构域参与蛋白质-蛋白质相互作用,可能调节这个基因编码的蛋白质和 EDR2 蛋白质的异二聚化。[由 RefSeq,2008 年 7 月提供]
Related ID:
NCBI:1911
ENSEMBL:ENSG00000111752
HGNC:3182
UNIPROT:P78364
OMIM:602978
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1911
24
15
27625 bp
105.53
91
2
2
12
PHC1 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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