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: | MUTYH |
| Gene Name: | MUTYH |
| Protein Full Name: | MutY homolog |
| Alias: | A/G-specific adenine DNA glycosylase; EC 3.2.2.-; MGC4416; MYH |
| Mass (Da): | 60069 |
| Number AA: | 546 |
| UniProt ID: | Q9UIF7 |
| Locus ID: | 4595 |
| COSMIC ID: | MUTYH |
| Gene location on chromosome: | 1p34.3-p32.1 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 20378 |
| Percent of cancer specimens with mutations: | 0.44 |
| Normal role description: | MUTYH is a DNA repair protein involved in base excision repair (BER). It recognizes and removes inappropriately inserted adenine bases when present in a Ao8-oxoG mispair. Primarly missense, though nonsense, framshits, and splice mutations have been found in intestinal adenomatous polyposis. |