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: | MTHFR |
| Gene Name: | MTHFR |
| Protein Full Name: | Methylenetetrahydrofolate reductase |
| Mass (Da): | 74597 |
| Number AA: | 656 |
| UniProt ID: | P42898 |
| Locus ID: | 4524 |
| COSMIC ID: | MTHFR |
| Gene location on chromosome: | 1p36.22 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 19626 |
| Percent of cancer specimens with mutations: | 0.51 |
| Normal role description: | MTHFR catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate -- a co-substrate for homocysteine remethylation to methionine. Polymorphisms in this gene have been found in some neoplasms, though it is unclear if this gene is a tumour suppressor or oncogene. |