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MSH2

mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)

On chromosome: 2p22-p21
Known also as: FCC1; COCA1; HNPCC; LCFS2; HNPCC1;


NCBI Gene ID: 4436
NCBI Ensembl Id: ENSG00000095002
MIM Id: (from NCBI OMIM database) 609309
Species: Homo sapiens

MSH2 was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. [provided by RefSeq]


Gene sequence:
[Download sequence]

Proteins coded by this gene:
Diseases related to this gene:
References:

Authors Title Journal
Fishel R, Ewel A, Lescoe MK Purified human MSH2 protein binds to DNA containing mismatched nucleotides. Cancer Res Nov. 1, 1994
Martik D, Baitinger C, Modrich P Differential specificities and simultaneous occupancy of human MutSalpha nucleotide binding sites. J Biol Chem July 2, 2004
Plotz G, Piiper A, Wormek M, Zeuzem S, Raedle J Analysis of the human MutLalpha.MutSalpha complex. Biochem Biophys Res Commun Jan. 17, 2006

Last modification of this entry: Oct. 6, 2010.

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