該基因座在遺傳性非息肉性結腸癌(HNPCC)中經常發生突變。克隆時,發現它是大腸桿菌錯配修復基因muts的人類同源物,與在hnpcc中發現的微衛星序列(rer+表型)的特征性變化一致。兩個編碼不同亞型的轉錄變體已經被發現。
This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene.

基因名:MSH2
別名:COCA1,FCC1,HNPCC,HNPCC1,LCFS2,hMSH2
基因ID:4436
Chromosome:
(GRCh37)
2 Start: 47630108 End: 47789450 Strand: 1
信號通路: 細胞周期  基因組不穩定  遺傳相關 
靶向藥: MEDI0680  MEDI4736 
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