這個基因編碼一個DNA錯配修復muts家族的成員。在大腸桿菌中,muts蛋白在修復前幫助識別不匹配的核苷酸。一個大約150個氨基酸的高度保守區,稱為walker-a腺嘌呤核苷酸結合基序,存在于muts同系物中。編碼蛋白與MSH2異二聚體形成一個失配識別復合物,作為雙向分子開關發揮作用,當DNA失配被結合和分離時交換ADP和ATP。該基因突變可能與遺傳性非息肉性結腸癌、結直腸癌和子宮內膜癌有關。已描述編碼不同亞型的轉錄變體。
This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described.

基因名:MSH6
別名:GTBP,GTMBP,HNPCC5,HSAP,p160
基因ID:2956
Chromosome:
(GRCh37)
2 Start: 47922669 End: 48037240 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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