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MSH6 mutS homolog 6

Gene ID: 2956, updated on 8-Apr-2024
Gene type: protein coding
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 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. [provided by RefSeq, Jul 2013]

Associated conditions

See all available tests in GTR for this gene

Endometrial carcinoma
MedGen: C0476089OMIM: 608089GeneReviews: Not available
See labs
Genome-wide association study of smoking behaviours in patients with COPD.
GeneReviews: Not available
Lynch syndrome
MedGen: C4552100GeneReviews: Lynch Syndrome
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Lynch syndrome 5
MedGen: C1833477OMIM: 614350GeneReviews: Not available
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Mismatch repair cancer syndrome 3
MedGen: C5436807OMIM: 619097GeneReviews: Not available
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Copy number response

Copy number response

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-10-13)

ClinGen Genome Curation PagePubMed

No evidence available (Last evaluated 2021-10-13)

ClinGen Genome Curation Page

Genomic context

Chromosome: 2; NC_000002.12 (47783145..47810101)
Total number of exons:


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