What is the Difference Between TSC1 and TSC2?
🆚 Go to Comparative Table 🆚TSC1 and TSC2 are genes that, when mutated, can cause Tuberous Sclerosis Complex (TSC), a rare genetic disorder characterized by the growth of benign tumors in various organs. Both genes play crucial roles in normal brain development and have overlapping functions. The main differences between TSC1 and TSC2 are:
- Location: TSC1 is located on chromosome 9 and codes for the protein called hamartin, while TSC2 is located on chromosome 16 and codes for the protein called tuberin.
- Mutation Frequency: TSC2 mutations are consistently more frequent than TSC1 mutations, accounting for about 60% to 90% of identified TSC families. In sporadic TSC cases, the disparity in mutational frequency is even greater.
- Phenotype: Although TSC1 and TSC2 phenotypes have been considered identical, some studies suggest that TSC2 mutations are associated with more severe disease and a higher risk of mental retardation compared to TSC1 mutations. However, the relationship between genotype and phenotype is complex, and not all studies have found clear-cut differences.
- Mutation Types: TSC1 mutations are more likely to be large deletions and missense mutations, while TSC2 mutations are more diverse, with large deletions, missense mutations, and other types being common.
In summary, while both TSC1 and TSC2 mutations can cause TSC, they exhibit differences in mutation frequency, severity of the disease, and the types of mutations observed. However, the relationship between genotype and phenotype is complex, and further research is needed to fully understand these differences.
Comparative Table: TSC1 vs TSC2
TSC1 and TSC2 are two genes that, when mutated, can cause Tuberous Sclerosis Complex (TSC), a genetic disorder characterized by the growth of numerous benign tumors in various parts of the body. Here is a table summarizing the differences between TSC1 and TSC2:
| Feature | TSC1 | TSC2 |
|---|---|---|
| Chromosome | 9 | 16 |
| Protein | Hamartin | Tuberin |
| Frequency of mutations in TSC | TSC1 mutations account for 10% to 30% of TSC cases | TSC2 mutations account for 60% to 90% of TSC cases |
| Genotype-Phenotype Correlations | TSC1-related cases are associated with a milder phenotype and fewer clinical features | TSC2-related cases are associated with a more severe disease and higher frequency of clinical features |
Both TSC1 and TSC2 genes code for proteins that are important components of the TSC tumor suppressor complex, which acts as a tumor suppressor when functional. Mutations in these genes can lead to the development of TSC, but the severity of the disease and the frequency of clinical features may vary depending on the type of mutation and the gene involved.