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MLH3mutL homolog 3 (E. coli) |
Known also as: HNPCC7; MGC138372;
| NCBI Gene ID: | 27030 |
| NCBI Ensembl Id: | ENSG00000119684 |
| MIM Id: (from NCBI OMIM database) | 604395 |
| Species: | Homo sapiens |
| This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
Diseases related to this gene:
- LYNCH SYNDROME I (#120435 )
- COLORECTAL CANCER (#114500 )
- ENDOMETRIAL CANCER (#608089 )
- LYNCH SYNDROME I (#120435 )
- COLORECTAL CANCER (#114500 )
- ENDOMETRIAL CANCER (#608089 )
- LYNCH SYNDROME I (#120435 )
- COLORECTAL CANCER (#114500 )
- ENDOMETRIAL CANCER (#608089 )
| Authors | Title | Journal |
| Lipkin SM, Wang V, Jacoby R, Banerjee-Basu S, Baxevanis AD, Lynch HT, Elliott RM, Collins FS | MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability. | Nat Genet Feb. 1, 2000 |
| Santucci-Darmanin S, Neyton S, Lespinasse F, Saunieres A, Gaudray P, Paquis-Flucklinger V | The DNA mismatch-repair MLH3 protein interacts with MSH4 in meiotic cells, supporting a role for this MutL homolog in mammalian meiotic recombination. | Hum Mol Genet July 15, 2002 |
| 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 |
| Hawken SJ, Greenwood CM, Hudson TJ, Kustra R, McLaughlin J, Yang Q, Zanke BW, Little J | The utility and predictive value of combinations of low penetrance genes for screening and risk prediction of colorectal cancer. | Hum Genet July 1, 2010 |
Last modification of this entry: Oct. 6, 2010.
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