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MSH6 - Gene Detail

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Gene Symbol MSH6
Synonyms GTBP | GTMBP | HNPCC5 | HSAP | LYNCH5 | MMRCS3 | MSH-6 | p160
Gene Description MSH6, mutS homolog 6, binds with Msh2 to form the MutS-alpha complex, which functions in initiation of the DNA mismatch repair system (PMID: 23391514) and is associated with microsatellite instability (MSI) (PMID: 30121009). Mutations in MSH6 are associated with susceptibility to colon cancer and endometrial cancer (PMID: 20028993), and germline MSH6 mutations are associated with Lynch (Hereditary Nonpolyposis Colorectal Cancer) syndrome (PMID: 15528792).
ACMG Incidental List v3.0:
Yes, Lynch syndrome (PMID: 34012068)
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
2956 2 2p16.3 NM_000179 Tumor suppressor (PMID: 30606230)

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