Variants
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MSH2 Gene

mutS homolog 2

ALIAS SYMBOLS

  • HNPCC

  • HNPCC1

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Description

The MSH2 gene provides instructions for making a protein that plays an essential role in repairing DNA. This protein helps fix errors that are made when DNA is copied (DNA replication) in preparation for cell division. The MSH2 protein joins with one of two other proteins, MSH6 or MSH3 (each produced from a different gene), to form a two-protein complex called a dimer. This complex identifies locations on the DNA where errors have been made during DNA replication. Another group of proteins, the MLH1-PMS2 dimer, then binds to the MSH2 dimer and repairs the errors by removing the mismatched DNA and replicating a new segment. The MSH2 gene is one of a set of genes known as the mismatch repair (MMR) genes.

CHROMOSOME

2


LOCATION

p21-p16.3


LOCUS TYPE

gene with protein product

VARIANTS

2,533

SEE THE VARIANTS →

Phenotypes

External Links

  • HGNC

    HGNC:7325

  • NCBI

    4436

  • OMIM

    609309

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