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: | ERCC6 |
| Gene Name: | ERCC6 |
| Protein Full Name: | DNA excision repair protein ERCC-6 |
| Alias: | ATP-dependent helicase ERCC6; CKN2; Cockayne syndrome B protein; Cockayne syndrome group B protein; Cockayne syndrome protein CSB; COFS; CSB; DNA excision repair protein ERCC-6: ATP-dependent helicase ERCC6: Cockayne syndrome protein CSB: Excision repair cross-complementing rodent repair deficiency, complementation group 6 variant; Excision repair cross-complementing rodent repair deficiency, complementation group 6; RAD26 |
| Mass (Da): | 168416 |
| Number AA: | 1493 |
| UniProt ID: | Q03468 |
| Locus ID: | 2074 |
| COSMIC ID: | ERCC6 |
| Gene location on chromosome: | 10q11.23 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 20214 |
| Percent of cancer specimens with mutations: | 1.2 |
| Normal role description: | Involved in DNA repair and the RNAase II transcription complex. Defects have been described to cause genetic syndromes related to skin development and UV sensitivity but not skin cancers per se. May be implicated in lung cancer susceptibility |