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: | FH |
| Gene Name: | FH |
| Protein Full Name: | Fumarate hydratase, mitochondrial |
| Alias: | EC 4.2.1.2; Fumarase; FUMH |
| Mass (Da): | 54637 |
| Number AA: | 510 |
| UniProt ID: | P07954 |
| Locus ID: | 2271 |
| COSMIC ID: | FH |
| Gene location on chromosome: | 1q42.3 |
| Number of cancer specimens: | 20018 |
| Percent of cancer specimens with mutations: | 0.44 |
| Mutations observed as inherited: | Familial leiomyomatosis. |
| Normal role description: | Enzyme-Fumarate hydratase. FH role is as a classic tumour suppressor gene in Hereditary leiomyomatosis and renal cell carcinoma and multiple cutaneous and uterine leiomyomatosis. Genetic and/or epigenetic deregulation in FH, via: substitution, deletion or methylation follow the Knudson "two hit" mechanism. Non-functional or low abundance fumarase can lead to oxidative tissue damage and tumorigenesis. |