TSC1 Gene

What is the TSC1 gene?

TSC1 encodes tsc complex subunit 1 (hamartin), a protein involved in mTORC1 regulation. It belongs to the Signaling category and is part of the Cellular Signaling biological cluster. TSC1 encodes hamartin, which forms a complex with TSC2 to inhibit mTORC1 signaling and regulate cell growth.

Biological role and pathway

TSC1 is involved in the mTORC1 regulation pathway, which plays a central role in regulating physiological processes relevant to immune defence, cellular energy, and systemic homeostasis. Genes within the Cellular Signaling cluster work together to maintain balanced function across interconnected biological systems.

Variants in genes within this pathway may influence an individual's predisposition to altered function in these systems — particularly under conditions of physiological stress such as viral infection or prolonged illness.

Known genetic variants

The following variants (SNPs) in the TSC1 gene have been studied in relation to signaling and chronic illness. Each variant represents a single nucleotide position where individuals may carry different alleles.

• rs2461028— TSC1 variant

Conditions studied in relation to TSC1

Research into TSC1 variants has explored associations with the following conditions. These are areas of scientific investigation and do not imply that TSC1 causes or treats any condition.

Genetic insights from DNA data

Consumer DNA files from 23andMe, AncestryDNA, and MyHeritage contain raw SNP data. When you upload your file to ChronicDNA, the analysis engine checks your genotype against a curated panel of 80+ genes selected for their relevance to Long COVID, ME/CFS, and connected biological pathways - some of which may include TSC1 and related genes in the cellular signaling pathway.

The report is educational - it explains which variants you carry, what the research says about them, and how they fit into the biological pathways most relevant to chronic illness. Results are presented in plain English with appropriate scientific context, no medical jargon, no scare tactics. All results should be discussed with a qualified healthcare provider.

Related genes in the Cellular Signaling pathway

TSC1 does not act in isolation. The following genes are functionally related and may be analysed together for a more complete picture of your genetic predispositions.

Frequently asked questions