Tuberous sclerosis complex 1, Hamartin

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit

Affinity chromatography purified via peptide column

Supplied in PBS containing 0.02% sodium azide.

Can be stored at -20 degree C, stable for one year. As with all antibodies care should be taken to avoid repeated freeze thaw cycles. Antibodies should not be exposed to prolonged high temperatures.

Small volumes of anti-TSC1 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Tuberous sclerosis complex (TSC) is an autosomal dominant tumor syndrome caused by mutations in either of the TSC1 or TSC2 tumor suppressor genes. The products of these genes form a protein complex that indirectly decreases the signaling of the mammalian Target of Rapamycin (TOR), an evolutionarily conserved serine/threonine kinase that regulates cell growth and cell cycle through its ability to integrate signals from nutrient levels and growth factors. TOR activity is stimulated by Rheb, a member of the Ras superfamily of G-proteins, when the GTP/GDP ratio bound to Rheb is high. Immunoprecipitated TSC1/TSC2 has been shown to stimulate Rheb GTPase activity in vitro, suggesting that the TSC1/TSC2 decreases the ability of Rheb to stimulate TOR activity. This is supported by experiments showing overexpression of TSC1 and TSC2 results in a significant decrease in the GTP/GDP ratio bound to Rheb and the inhibition of cell growth. A shorter 40 kDa isoform of TSC1 has been shown to exist but its function is unknown.

Total protein Ab

ELISA (EIA), Western Blot (WB), Immunocytochemistry (ICC)

Western blot analysis of TSC1 in EL4 cell lysate with TSC1 antibody at 1 ug/mL in the (A) absence and (B) presence of blocking peptide.

Immunocytochemistry of TSC1 in EL4 cells with TSC1 antibody at 2 ug/mL

124,015 Da

tuberous sclerosis 1

hamartin

Hamartin

KIAA0243; TSC??[Similar Products]

TSC1_HUMAN

This gene encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin. Mutations in this gene have been associated with tuberous sclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]

TSC1: tuberous sclerosis protein 1 (TSC1). May have tumor suppressor activity. Together with tuberin (TSC2), inhibits mammalian target of rapamycin (mTOR)-mediated signaling to eukaryotic initiation factor 4E-binding protein 1 (4E-BP1) and ribosomal protein S6 kinase. Regulated by the phosphatidylinositol 3-kinase/Akt pathway and phosphorylation of tuberin. Phosphorylated by cyclin-dependent kinase 1/cyclin B during the cell cycle.

Protein type: Motility/polarity/chemotaxis; Tumor suppressor

Chromosomal Location of Human Ortholog: 9q34

Cellular Component: TSC1-TSC2 complex; growth cone; protein complex; membrane; intracellular membrane-bound organelle; lamellipodium; cytoplasm; plasma membrane; actin filament; cell cortex; cytosol

Molecular Function: protein binding; chaperone binding; GTPase activating protein binding; protein N-terminus binding; GTPase regulator activity

Biological Process: myelination; regulation of cell-matrix adhesion; protein heterooligomerization; regulation of cell cycle; cell-matrix adhesion; negative regulation of insulin receptor signaling pathway; negative regulation of cell size; regulation of phosphoprotein phosphatase activity; cardiac muscle cell differentiation; response to insulin stimulus; regulation of translation; negative regulation of cell proliferation; cell projection organization and biogenesis; positive regulation of focal adhesion formation; synapse organization and biogenesis; cell cycle arrest; kidney development; potassium ion transport; negative regulation of TOR signaling pathway; protein stabilization; hippocampus development; rRNA export from nucleus; glucose import; negative regulation of translation; regulation of stress fiber formation; neural tube closure; insulin receptor signaling pathway; cerebral cortex development; regulation of protein kinase activity

Disease: Lymphangioleiomyomatosis; Focal Cortical Dysplasia Of Taylor; Tuberous Sclerosis 1

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