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: | POLH |
| Gene Name: | POLH |
| Protein Full Name: | DNA polymerase eta |
| Alias: | Polymerase (DNA directed) eta; RAD30; RAD30A; Xeroderma pigmentosum variant type protein; XP-V |
| Mass (Da): | 78413 |
| Number AA: | 713 |
| UniProt ID: | Q9Y253 |
| Locus ID: | 5429 |
| COSMIC ID: | POLH |
| Gene location on chromosome: | 6p21.1 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 19781 |
| Percent of cancer specimens with mutations: | 0.44 |
| Mutations observed as inherited: | Xeroderma pigmentosum variant type (XPV). |
| Normal role description: | POLH is a DNA polymerase required for DNA nucleotide excision repair. POLH has a lower fidelity in activity but can bypass UV induced DNA-damage lesions which would otherwise stall other DNA polymerases. POLH is a required component for nucleotide excision repair of pyrimidine dimers. Dysfunction of POLH has been implicated in the development of xeroderma pigmentosum variant type (XPV). XPV patients suffer from increased sensitivity to ultraviolet light damage and predisposition to develop skin cancers mostly manifesting at a later age. Various mis-sense mutations in POLH have been identified in XPV patients. Most of the mutations have been observed to reduce polymerase activity and function. |