Variants
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PMS2 Gene

PMS1 homolog 2, mismatch repair system component

ALIAS SYMBOLS

  • H_DJ0042M02.9

  • HNPCC4

  • MLH4

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Description

The PMS2 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 PMS2 protein joins with another protein called MLH1 (produced from the MLH1 gene) to form a two-protein complex called a dimer. This complex coordinates the activities of other proteins that repair errors made during DNA replication. Repairs are made by removing the section of DNA that contains errors and replacing it with a corrected DNA sequence. The PMS2 gene is a member of a set of genes known as the mismatch repair (MMR) genes.

CHROMOSOME

7


LOCATION

p22.1


LOCUS TYPE

gene with protein product

VARIANTS

2,014

SEE THE VARIANTS →

Phenotypes

External Links

  • HGNC

    HGNC:9122

  • NCBI

    5395

  • OMIM

    600259

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