Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | MLH3 |
| Gene Name: | MLH3 |
| Protein Full Name: | DNA mismatch repair protein Mlh3 |
| Alias: | MutL 3 |
| Mass (Da): | 163710 |
| Number AA: | 1453 |
| UniProt ID: | Q9UHC1 |
| Locus ID: | 27030 |
| COSMIC ID: | MLH3 |
| Gene location on chromosome: | 14q24.3 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 19779 |
| Percent of cancer specimens with mutations: | 0.98 |
| Mutations observed as inherited: | Hereditary nonpolyposis colorectal cancer type 7 |
| Normal role description: | MLH3 is aDNA mis-match repair protein implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. It functions as a heterodimer with other member of the MutL-homolog (MLH) family. Somatic mutations are often found in the gene in tumours exhibiting microsatellite instability, and germline mutations of the gene have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7), |
| Commentary on involvement of protein in cancer: | Only 2 ovarian samples were included in Sanger COSMIC. 1 laryngeal tumour sample was also mutated (mis-sense) |