TSC1 Antibodies

Structure of TSC1

The molecular weight of the Hamartin protein encoded by the TSC1 gene is approximately 130 kDa, and its molecular weight varies slightly among different species due to differences in amino acid sequences.

This protein is composed of 1164 amino acids, and its N-terminal region forms a coiled helical structure, which is the key region for binding to the TSC2 protein (Tuberin) and forming a functional complex. This complex negatively regulates Rheb GTPase through its C-terminal domain as a GAP, thereby inhibiting the mTORC1 signaling pathway and playing a core role in controlling cell growth, proliferation and autophagy. The protein structure is relatively stable, and its functional inactivation is closely related to the occurrence of tuberous sclerosis and various tumors.

Fig. 1 Schematic representation of TSC1.¹

Key structural properties of TSC1:

• Contains an N-terminal coiled-coil domain for binding to the TSC2 protein
• Form a stable core framework of the TSC protein complex
• It participates in GAP activity through C-terminal domain and negatively regulates mTOR pathway

Functions of TSC1

The core function of the TSC1 gene is to bind with the TSC2 protein to form a complex, negatively regulating the mTORC1 signaling pathway, thereby inhibiting excessive cell growth and proliferation. In addition, it is also involved in regulating other key cellular physiological processes.

The inhibitory effect of the TSC1-TSC2 complex on mTORC1 is like a "molecular brake", with its regulation being continuous and dose-dependent. This is different from many switch-mode signaling pathways, ensuring that cells can maintain precise homeostatic equilibrium under various growth signals and stress conditions.

Applications of TSC1 and TSC1 Antibody in Literature

• Backe, Sarah J., et al. "Emerging link between Tsc1 and FNIP co-chaperones of Hsp90 and cancer." Biomolecules 12.7 (2022): 928. https://doi.org/10.3390/biom12070928 

The article indicates that TSC1, as a novel copartner of Hsp90, regulates the stability of key proteins such as Tsc2, affects tumor suppression and the function of Hsp90 client proteins. Its independent activity from Tsc2 and its role in diseases still need to be further analyzed.

• Wang, Shuang, et al. "Unraveling the function of TSC1-TSC2 complex: implications for stem cell fate." Stem Cell Research & Therapy 16.1 (2025): 38. https://doi.org/10.1186/s13287-025-04170-3

The article indicates that tuberous sclerosis is caused by mutations in the TSC1/TSC2 genes. This review summarizes that this complex regulates the fate of various stem cells such as neural and hematopoietic ones through the mTOR pathway, providing new potential targets and research directions for disease treatment.

• Dufner-Almeida, Luiz Gustavo, et al. "Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex." Genes 15.11 (2024): 1432. https://doi.org/10.3390/genes15111432 

The article indicates that tuberous sclerosis is mainly caused by variations in the TSC1/TSC2 genes. A study conducted genetic testing on 116 confirmed patients and detected pathogenic mutations in 91%, among which 35 were newly discovered. Functional analysis confirmed that specific variations can disrupt the function of protein complexes and can assist in diagnosis.

• Huang, Qingyuan, et al. "Loss of TSC1/TSC2 sensitizes immune checkpoint blockade in non–small cell lung cancer." Science advances 8.5 (2022): eabi9533. https://doi.org/10.1126/sciadv.abi9533 

The article indicates that in non-small cell lung cancer, the absence of TSC1 or TSC2 will up-regulate PD-L1 expression and reshape the tumor microenvironment, making it highly sensitive to immunotherapies such as PD-1 inhibitors, providing a new direction for precise treatment for related patients.

• You, Qingqing, et al. "Splicing Analysis of Exonic TSC1 and TSC2 Gene Variants Causing Tuberous Sclerosis Complex." Human Mutation 2025.1 (2025): 1497712. https://doi.org/10.1155/humu/1497712 

The article indicates that tuberous sclerosis is caused by mutations in the TSC1/TSC2 genes, including mutations that affect RNA splicing. Through bioinformatics and experimental analysis, the research revealed that specific mutations can lead to exon skipping or intron retention, emphasizing the importance of splicing assessment for diagnosis.

Creative Biolabs: TSC1 Antibodies for Research

Creative Biolabs specializes in the production of high-quality TSC1 antibodies for research and industrial applications. Our portfolio includes monoclonal antibodies tailored for ELISA, Flow Cytometry, Western blot, immunohistochemistry, and other diagnostic methodologies.

• Custom TSC1 Antibody Development: Tailor-made solutions to meet specific research requirements.
• Bulk Production: Large-scale antibody manufacturing for industry partners.
• Technical Support: Expert consultation for protocol optimization and troubleshooting.
• Aliquoting Services: Conveniently sized aliquots for long-term storage and consistent experimental outcomes.

For more details on our TSC1 antibodies, custom preparations, or technical support, contact us at email.