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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
RBBP8 - RB Binding Protein 8, Endonuclease
Alias:
RIM
COM1
CTIP
JWDS
SAE2
JAWAD
SCKL2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一种广泛表达的核蛋白。它存在于几种直接结合视网膜母细胞瘤蛋白的蛋白质中,该蛋白调节细胞增殖。这种蛋白质与转录共抑制子CTBP形成复合物。它还与BRCA1相关,被认为可以调节BRCA1在转录调控、DNA修复和/或细胞周期检查点控制中的功能。有人认为这个基因本身可能是作为BRCA1相同途径中的肿瘤抑制因子。已经发现这个基因有三个转录变异体,编码两种不同的异构体。还存在更多的转录变异体,但它们的完整性质尚未确定。[由RefSeq,2008年7月提供]
Related ID:
NCBI:5932
ENSEMBL:ENSG00000101773
HGNC:9891
UNIPROT:Q99708
OMIM:604124
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5932
14
19
112348 bp
101.94
287
4
9
45
RBBP8 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Name
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Status
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Link
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