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PMS2PMS2 postmeiotic segregation increased 2 (S. cerevisiae) |
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:
- LYNCH SYNDROME I (#120435 )
- MISMATCH REPAIR CANCER SYNDROME (#276300 )
- COLORECTAL CANCER (#114500 )
- COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 (+600259)
- LYNCH SYNDROME I (#120435 )
- MISMATCH REPAIR CANCER SYNDROME (#276300 )
- COLORECTAL CANCER (#114500 )
- COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 (+600259)
- LYNCH SYNDROME I (#120435 )
- MISMATCH REPAIR CANCER SYNDROME (#276300 )
- COLORECTAL CANCER (#114500 )
- COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 (+600259)
- LYNCH SYNDROME I (#120435 )
- MISMATCH REPAIR CANCER SYNDROME (#276300 )
- COLORECTAL CANCER (#114500 )
- COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 (+600259)
| 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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