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: | SDHD |
| Gene Name: | SDHD |
| Protein Full Name: | Succinate dehydrogenase [ubiquinone] cytochrome b |
| Alias: | CII-4;QPs3;Succinate dehydrogenase complex subunit D;Succinate-ubiquinone oxidoreductase cytochrome b small subunit;Succinate-ubiquinone reductase membrane anchor subunit |
| Mass (Da): | 17043 |
| Number AA: | 159 |
| UniProt ID: | O14521 |
| Locus ID: | 6392 |
| COSMIC ID: | SDHD |
| Gene location on chromosome: | 11q23 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 19805 |
| Percent of cancer specimens with mutations: | 0.14 |
| Mutations observed as inherited: | Familial paragangliomas. Non-hereditary: pheochromocytoma. |
| Normal role description: | Succinate ubiquinone oxidoreductase subunit D (SDHD) in the mitochondrial respiratory chain complex II. Mutations in this gene can cause hereditary and non-hereditary paragangliomas. There tumors are slow growing, highly vascular, usually benign, and derived from crest-neural cells. |