Hamartin, Polyclonal Antibody

Anti -Hamartin, ID (TSC1, KIAA0243, TSC, Hamartin, Tuberous sclerosis 1 protein)

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

Chromosome: 9; NC_000009.11 (135766735..135820094, complement). Location: 9q34

Polyclonal

IgG

Rabbit

Human

Affinity Purified
Purified by Protein A affinity chromatography.

Supplied as a liquid in PBS, pH 7.2, 0.09% sodium azide.

May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

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.

Antibodies; Abs to Disease Markers

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

Suitable for use in Western Blot, Immunohistochemistry, Immunofluorescence, ELISA
Dilution: ELISA1:1,000
Western Blot: 1:100-500
Immunohistochemistry: 1:10-50
Immunofluorescence: 1:10-50

129,767 Da[Similar Products]

tuberous sclerosis 1

hamartin; tumor suppressor; tuberous sclerosis 1 protein

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; intracellular membrane-bound organelle; membrane; 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; 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; negative regulation of translation; regulation of stress fiber formation; glucose import; 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

All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.

While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.