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MSH6 mutS homolog 6

Gene ID: 2956, updated on 9-Feb-2020
Also known as: GTBP; HSAP; p160; GTMBP; HNPCC5

Summary

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

DescriptionTests
Endometrial carcinoma
MedGen: C0476089OMIM: 608089GeneReviews: Not available
See labs
Hereditary nonpolyposis colorectal cancer type 5
MedGen: C1833477OMIM: 614350GeneReviews: Not available
See labs
Turcot syndrome
MedGen: C0265325OMIM: 276300GeneReviews: Lynch Syndrome
See labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2015-11-16)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2015-11-16)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
2p16.3
Sequence:
Chromosome: 2; NC_000002.12 (47783082..47806954)
Total number of exons:
12

Links

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