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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
RBBP4 - RB Binding Protein 4, Chromatin Remodeling Factor
Alias:
NURF55
RBAP48
lin-53
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种在核内普遍表达的核蛋白,属于高度保守的 WD 重复蛋白亚家族。它存在于与组蛋白乙酰化和染色质组装有关的蛋白质复合物中。它是 Mi-2 复合物的一部分,该复合物已被证明与与组蛋白去乙酰化相关的染色质重塑和转录抑制有关。编码的蛋白质也是共抑制复合物的一部分,这是转录沉默的组成部分。它在许多直接与视网膜母细胞瘤蛋白结合以调节细胞增殖的细胞蛋白中发现。这种蛋白质似乎还参与 E2F 反应基因的转录抑制。已发现此基因的三种转录变体,编码不同的等位基因。 [由 RefSeq 提供,2008 年 9 月]
Related ID:
NCBI:5928
ENSEMBL:ENSG00000162521
HGNC:9887
UNIPROT:Q09028
OMIM:602923
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
5928
3
12
35004 bp
47.66
5
--
3
53
RBBP4 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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