The TSC2 gene provides instructions for producing a protein called tuberin, whose function is not fully understood. Learn about this gene and related health conditions.

Tuberous sclerosis complex 2 (TSC2), also known as tuberin, is a protein that in humans is encoded by the TSC2 gene. Mutations in this gene lead to tuberous sclerosis. Its gene product …

Dec 12, 2024 · This information explains how having a mutation in the TSC2 gene may affect you and your family. In this resource, the word “family” means people related to you by blood.

Jul 13, 1999 · TSC2 pathogenic variants are associated with a more severe phenotype than TSC1 pathogenic variants. A higher percentage of individuals with more severe features of TSC …

Jan 15, 2026 · Complete information for TSC2 gene (Protein Coding), TSC Complex Subunit 2, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The …

Jun 14, 2025 · Mutations in the TSC2 gene are a primary cause of a multi-system genetic disorder called Tuberous Sclerosis Complex (TSC). This condition leads to the growth of hamartomas …

Discuss reproductive risks. Individuals with a TSC2 variant have a 50% chance to pass on the variant to a child. Preconception and prenatal reproductive options are available and could be …

Jan 5, 2024 · The cancer genetics field is continuously evolving, so updates related to your TSC2 result, medical recommendations, and/or potential treatments may be available over time.

The TSC gene on chromosome 16 was originally designated TSC4. With the consensus that there is no locus for tuberous sclerosis on chromosome 11 or chromosome 12, the TSC gene on …

Feb 4, 2025 · Recent studies have uncovered that the disruption of the TSC1-TSC2 complex in stem cells is linked to tuberous sclerosis complex, highlighting its importance in regulating …