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PMS2

PMS2 postmeiotic segregation increased 2 (S. cerevisiae)

On chromosome: 7p22.2
Known also as: PMSL2; HNPCC4; PMS2CL;


NCBI Gene ID: 5395
NCBI Ensembl Id: ENSG00000122512
MIM Id: (from NCBI OMIM database) 600259
Species: Homo sapiens

This gene is one of the PMS2 gene family members found in clusters on chromosome 7. The product of this gene is involved in DNA mismatch repair. It forms a heterodimer with MLH1 and this complex interacts with other complexes bound to mismatched bases. Mutations in this gene are associated with hereditary nonpolyposis colorectal cancer, Turcot syndrome, and are a cause of supratentorial primitive neuroectodermal tumors. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq]


Gene sequence:
[Download sequence]

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

Authors Title Journal
Ceccotti S, Ciotta C, Fronza G, Dogliotti E, Bignami M Multiple mutations and frameshifts are the hallmark of defective hPMS2 in pZ189-transfected human tumor cells. Nucleic Acids Res July 1, 2000
Plotz G, Raedle J, Brieger A, Trojan J, Zeuzem S hMutSalpha forms an ATP-dependent complex with hMutLalpha and hMutLbeta on DNA. Nucleic Acids Res Jan. 1, 2002
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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