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PMS1PMS1 postmeiotic segregation increased 1 (S. cerevisiae) |
Known also as: PMSL1; hPMS1; HNPCC3; FLJ98259; DKFZp781M0253;
| NCBI Gene ID: | 5378 |
| NCBI Ensembl Id: | ENSG00000064933 |
| MIM Id: (from NCBI OMIM database) | 600258 |
| Species: | Homo sapiens |
| This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
Diseases related to this gene:
- LYNCH SYNDROME I (#120435 )
- COLORECTAL CANCER (#114500 )
- COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 (+600259)
- LYNCH SYNDROME I (#120435 )
- COLORECTAL CANCER (#114500 )
- COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 (+600259)
- LYNCH SYNDROME I (#120435 )
- COLORECTAL CANCER (#114500 )
- COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 (+600259)
| Authors | Title | Journal |
| Adeyemo A, Gerry N, Chen G, Herbert A, Doumatey A, Huang H, Zhou J, Lashley K, Chen Y, Christman M, Rotimi C | A genome-wide association study of hypertension and blood pressure in African Americans. | PLoS Genet July 1, 2009 |
| Hosgood HD 3rd, Menashe I, He X, Chanock S, Lan Q | PTEN identified as important risk factor of chronic obstructive pulmonary disease. | Respir Med Dec. 1, 2009 |
| Guey LT, Garcia-Closas M, Murta-Nascimento C, Lloreta J, Palencia L, Kogevinas M, Rothman N, Vellalta G, Calle ML, Marenne G, Tardon A, Carrato A, Garcia-Closas R, Serra C, Silverman DT, Chanock S, Real FX, Malats N | Genetic susceptibility to distinct bladder cancer subphenotypes. | Eur Urol Jan. 1, 2010 |
| Monsees GM, Kraft P, Chanock SJ, Hunter DJ, Han J | Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk. | Breast Cancer Res Treat May 23, 2010 |
| Hong KW, Jin HS, Lim JE, Kim S, Go MJ, Oh B | Recapitulation of two genomewide association studies on blood pressure and essential hypertension in the Korean population. | J Hum Genet June 1, 2010 |
Last modification of this entry: Oct. 6, 2010.
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