与MSH3相关的错配修复缺陷
中文名称
通路描述
MSH3与MSH2形成异二聚体，构成MSH3:MSH2复合物，属于后复制DNA错配修复系统的一部分。该复合物通过结合错配起始修复，随后与MutLα异二聚体形成复合物。该基因在第一个外显子含有一个多态性的9 bp串联重复序列。该基因的缺陷是子宫内膜癌易感性的原因。
英文描述
Defective Mismatch Repair Associated With MSH3 MSH3 forms a heterodimer with MSH2 to form the MSH3:MSH2 complex, part of the post-replicative DNA mismatch repair system. This complex initiates mismatch repair by binding to a mismatch and then forming a complex with MutL alpha heterodimer. This gene contains a polymorphic 9 bp tandem repeat sequence in the first exon. Defects in this gene are a cause of susceptibility to endometrial cancer.
所含基因
1 个基因