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Open Access Articles- Top Results for PMS1

PMS1

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Identifiers
SymbolsPMS1 ; HNPCC3; PMSL1; hPMS1
External IDsOMIM600258 MGI1202302 HomoloGene449 GeneCards: PMS1 Gene
RNA expression pattern
File:PBB GE PMS1 213677 s at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez5378227099
EnsemblENSG00000064933ENSMUSG00000026098
UniProtP54277Q8K119
RefSeq (mRNA)NM_000534NM_153556
RefSeq (protein)NP_000525NP_705784
Location (UCSC)Chr 2:
190.65 – 190.74 Mb
Chr 1:
53.19 – 53.3 Mb
PubMed search[1][2]

PMS1 protein homolog 1 is a protein that in humans is encoded by the PMS1 gene.[1][2]

Function

The protein encoded by this gene was identified by its homology to a yeast protein involved in DNA mismatch repair. A role for this protein in mismatch repair has not been proven. However, the protein forms heterodimers with MLH1, a DNA mismatch repair protein, and some cases of hereditary nonpolyposis colorectal cancer have been found to have mutations in this gene.[2]

References

  1. ^ Nicolaides NC, Papadopoulos N, Liu B, Wei YF, Carter KC, Ruben SM et al. (Sep 1994). "Mutations of two PMS homologues in hereditary nonpolyposis colon cancer". Nature 371 (6492): 75–80. PMID 8072530. doi:10.1038/371075a0. 
  2. ^ a b "Entrez Gene: PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)". 

Further reading

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