菜单 基因医生

由该基因编码的蛋白质包含N-末端叉头结构域、两个BRCA1 C-末端(BRCT)基序和13个重复约41个氨基酸序列的中心结构域。编码蛋白需要激活s期和g2/m期细胞周期检查点以应对dna损伤。该核蛋白与磷酸化组蛋白h2ax在dna双链位点附近相互作用,突破其brct基序,促进atm激酶和减数分裂重组11蛋白复合物向dna损伤灶的募集。[由RefSeq提供,2008年7月]
The protein encoded by this gene contains an N-terminal forkhead domain, two BRCA1 C-terminal (BRCT) motifs and a central domain with 13 repetitions of an approximately 41-amino acid sequence. The encoded protein is required to activate the intra-S phase and G2/M phase cell cycle checkpoints in response to DNA damage. This nuclear protein interacts with phosphorylated histone H2AX near sites of DNA double-strand breaks through its BRCT motifs, and facilitates recruitment of the ATM kinase and meiotic recombination 11 protein complex to DNA damage foci. [provided by RefSeq, Jul 2008]

基因名:MDC1
别名:NFBD1
基因ID:9656
Chromosome:
(GRCh37)
6 Start: 30667584 End: 30685458 Strand: 
信号通路:  
MDC1 基因突变与药物