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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
RAD51B - RAD51 Paralog B
Alias:
REC2
R51H2
RAD51L1
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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RAD51蛋白质家族的一员。RAD51家族成员是进化保守的蛋白质,对于通过同源重组进行DNA修复是必需的。这个蛋白质已经显示与家族成员RAD51C形成稳定的异二聚体,进一步与其他家族成员如RAD51、XRCC2和XRCC3相互作用。发现这个基因的过度表达导致细胞周期G1期延迟和细胞凋亡,这表明这个蛋白质在感知DNA损伤中发挥作用。已经在这个基因座和高度移动组AT钩2(HMGA2,GeneID 8091)之间观察到了重排,在子宫平滑肌瘤中。[由RefSeq提供,2016年3月]
Related ID:
NCBI:5890
ENSEMBL:ENSG00000182185
HGNC:9822
UNIPROT:O15315
OMIM:602948
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5890
12
11
863318 bp
42.20
108
--
2
22
RAD51B 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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