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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
RPA2 - Replication Protein A2
Alias:
REPA2
RPA32
RP-A p32
RP-A p34
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码了三聚体复制蛋白A(RPA)复合物的一个亚基,该复合物结合单链DNA(ssDNA),形成一个核酸蛋白复合物,该复合物在DNA代谢中起着重要作用,参与DNA复制、修复、重组、端粒维持,并通过激活Ataxia telangiectasia和Rad3相关蛋白(ATR)激酶协调细胞对DNA损伤的反应。RPA复合物保护单链DNA免受核酸酶的侵害,防止形成会干扰修复的二级结构,并协调不同基因维护因子的招募和离开。三聚体复合物有两种不同的ssDNA结合模式,一种是低亲和力模式,另一种是高亲和力模式,取决于复合物中使用的寡核苷酸/寡糖结合(OB)域,以及结合的DNA长度不同。这个亚基包含一个参与高亲和力DNA结合的单个OB域,还包含在其羧基末端的一个翼状螺旋域,该域与许多基因维护蛋白相互作用。RPA复合物的后翻译修饰也在协调不同的损伤反应途径中发挥作用。[由RefSeq提供,2017年9月]
Related ID:
NCBI:6118
ENSEMBL:ENSG00000117748
HGNC:10290
UNIPROT:P15927
OMIM:179836
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
6118
7
9
23274 bp
29.25
8
--
--
46
RPA2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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No data available
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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