这个基因编码一个DNA错配修复muts家族的成员。在大肠杆菌中,muts蛋白在修复前帮助识别不匹配的核苷酸。一个大约150个氨基酸的高度保守区,称为walker-a腺嘌呤核苷酸结合基序,存在于muts同系物中。编码蛋白与MSH2异二聚体形成一个失配识别复合物,作为双向分子开关发挥作用,当DNA失配被结合和分离时交换ADP和ATP。该基因突变可能与遗传性非息肉性结肠癌、结直肠癌和子宫内膜癌有关。已描述编码不同亚型的转录变体。
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
别名:GTBP,GTMBP,HNPCC5,HSAP,p160
基因ID:2956
Chromosome:
(GRCh37)
2 Start: 47922669 End: 48037240 Strand: 1
疾病: 林奇综合征 尿路上皮癌 
靶向药: MEDI0680 MEDI4736 
MSH6 基因突变与药物