Variants
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MSH6 Gene

mutS homolog 6

ALIAS SYMBOLS

  • None

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Description

The MSH6 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 MSH6 protein joins with another protein called MSH2 (produced from the MSH2 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. Additional proteins, including another dimer called the MLH1-PMS2 dimer, then repair the errors by removing the mismatched DNA and replicating a new segment. The MSH6 gene is a member of a set of genes known as the mismatch repair (MMR) genes.

CHROMOSOME

2


LOCATION

p16.3


LOCUS TYPE

gene with protein product

VARIANTS

3,195

SEE THE VARIANTS →

Phenotypes

External Links

  • HGNC

    HGNC:7329

  • NCBI

    2956

  • OMIM

    600678

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