Hamartin; Tuberous sclerosis 1 protein; TSC1; KIAA0243; TSC

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

Polyclonal

Rabbit Ig

Rabbit

This Hamartin (TSC1) antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 401-430 amino acids from the Central region of human Hamartin (TSC1).

Peptide Affinity Purified Rabbit Polyclonal Antibody (Pab)

Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.

Vial Concentration: 0.5 (lot specific)

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw cycles.

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.

Implicated as a tumor suppressor. May have a function in vesicular transport. Interaction between TSC1 and TSC2 may facilitate vesicular docking.
Defects in TSC1 are the cause of tuberous sclerosis complex (TSC). The molecular basis of TSC is a functional impairement of the hamartin-tuberin complex. TSC is an autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. TSC is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical symptoms can range from benign hypopigmented macules of the skin to profound mental retardation with intractable seizures to premature death from a variety of disease-associated causes.
Defects in TSC1 may be a cause of focal cortical dysplasia of Taylor balloon cell type (FCDBC). FCDBC is a subtype of cortical displasias linked to chronic intractable epilepsy. Cortical dysplasias display a broad spectrum of structural changes, which appear to result from changes in proliferation, migration, differentiation, and apoptosis of neuronal precursors and neurons during cortical development.

Cancer; Cell Biology; Metabolism

Western Blot (WB), ELISA (EIA), Immunohistochemistry (IHC), Immunofluorescence (IF)

WB~~1:1000

TSC1 Antibody (Center) western blot analysis in MDA-MB231 cell line lysates (35ug/lane).This demonstrates the TSC1 antibody detected the TSC1 protein (arrow).

Hamartin (TSC1) Antibody (Center) immunohistochemistry analysis in formalin fixed and paraffin embedded human skeletal muscle followed by peroxidase conjugation of the secondary antibody and DAB staining.This data demonstrates the use of Hamartin (TSC1) Antibody (Center) for immunohistochemistry. Clinical relevance has not been evaluated.

Confocal immunofluorescent analysis of Hamartin (TSC1) Antibody (Center) with Hela cell followed by Alexa Fluor 488-conjugated goat anti-rabbit lgG (green). DAPI was used to stain the cell nuclear (blue).

129767

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: Tumor suppressor; Motility/polarity/chemotaxis

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; protein N-terminus binding; GTPase activating protein binding; GTPase regulator activity

Biological Process: myelination; protein heterooligomerization; regulation of cell cycle; regulation of cell-matrix adhesion; 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; regulation of stress fiber formation; negative regulation of translation; 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

Wu, J., et al., J. Cutan. Pathol. 31(5):383-387 (2004).
Lewis, J.C., et al., J. Med. Genet. 41(3):203-207 (2004).
J, et al., J. Child Neurol. 19(2):102-106 (2004).
Murthy, V., et al., J. Biol. Chem. 279(2):1351-1358 (2004).
Astrinidis, A., et al., J. Biol. Chem. 278(51):51372-51379 (2003).

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