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Official Full Name: mutS homolog 6
Also known as: GTBP; HSAP; p160; GTMBP; MSH-6; HNPCC5; LYNCH5; MMRCS3
This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps recognize mismatched nucleotides before they are repaired. A highly conserved region of approximately 150 aa exists among MutS homologues, called the Walker-A adenine nucleotide-binding motif. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that acts as a bidirectional molecular switch that exchanges ADP and ATP upon DNA mismatch association and dissociation. Mutations in this gene may be associated with hereditary nonpolyposis colon, colorectal, and endometrial cancers. Transcript variants encoding different isoforms have been described.