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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
小鼠
Mdc1 - mediator of DNA damage checkpoint 1
Alias:
Nfbd1
mKIAA0170
6820401C03
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码的蛋白质含有N端翼状域,两个BRCA1 C端(BRCT)基序和中央结构域,其中包含7个大约41个氨基酸序列的不同的拷贝。该编码的蛋白质是激活S期内和G2/M期细胞周期检查点所必需的,以响应DNA损伤。这种核蛋白通过其BRCT基序与DNA双链断裂附近的磷酸化组蛋白H2AX相互作用,并促进ATM激酶和减数分裂重组11蛋白复合物招募到DNA损伤焦点。这个基因突变的小鼠表现出生长迟缓,男性不育,免疫缺陷,染色体不稳定,DNA修复缺陷和辐射敏感性。[由RefSeq,2008年7月提供]
Related ID:
NCBI:240087
ENSEMBL:ENSMUSG00000061607
UNIPROT:Q5PSV9
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
240087
10
16
18173 bp
184.67
4
10
Mdc1 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Name
MGI
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