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: | FANCA |
| Gene Name: | FANCA |
| Protein Full Name: | Fanconi anemia group A protein |
| Alias: | FA; Fa; FA1; FAA; FACA; FAH; FA-H; FANCH; Fanconi anemia, complementation group A |
| Mass (Da): | 162775 |
| Number AA: | 1455 |
| UniProt ID: | O15360 |
| Locus ID: | 2175 |
| COSMIC ID: | FANCA |
| Gene location on chromosome: | 16q24.3 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 20543 |
| Percent of cancer specimens with mutations: | 0.95 |
| Normal role description: | DNA repair gene that complexes to form the FA complex with FANC(C,E,F,G) proteins. Disruptions in normal gene function ultimately lead to the inability to repair DNA when it becomes damaged and hypersensitivity to DNA-damaging agents. Implicated in Fanconi Anemia (bone marrow disorder) and elevated risk of cancer |