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: | RECQL4 |
| Gene Name: | RECQL4 |
| Protein Full Name: | ATP-dependent DNA helicase Q4 |
| Alias: | DNA helicase, RecQ-like type 4;RTS;RecQ protein-like 4 |
| Mass (Da): | 133077 |
| Number AA: | 1208 |
| UniProt ID: | O94761 |
| Locus ID: | 9401 |
| COSMIC ID: | RECQL4 |
| Gene location on chromosome: | 8q24.3 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 20442 |
| Percent of cancer specimens with mutations: | 0.82 |
| Mutations observed as inherited: | Rothmund-Thomson Syndrome and RAPADILINO Syndrome (high risk of developing osteosarcoma) |
| Normal role description: | DNA helicase of the RecQ family. May modulate chromosome segregation. |