Rabbit anti-Human Hamartin Polyclonal Antibody | anti-TSC1 antibody

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

Cat. Num. AAA6305352

• Gene Names: TSC1; LAM; TSC
• Reactivity: Human
• Applications: Immunofluorescence, ELISA, Immunohistochemistry, Western Blot
• Purity: Purified by Protein A Affinity Chromatography.
• Synonyms: Hamartin; Polyclonal Antibody; ID (TSC1; KIAA0243; TSC; Tuberous sclerosis 1 protein) (Biotin); TSC1; Tuberous sclerosis 1 protein; anti-TSC1 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Purified by Protein A Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with Biotin.

• Applicable Applications for anti-TSC1 antibody: Immunofluorescence (IF), ELISA (EIA), Immunohistochemistry (IHC), Western Blot (WB)
• Application Notes: IF: 1:10-50; ELISA: 1:1,000; IHC: 1:10-50; WB: 1:100-500; Applications are based on unconjugated antibody.
• Immunogen: TSC1 antibody is generated from rabbits immunized with a KLH conjugated Synthetic peptide selected from the center region of human TSC1.
• Conjugate: Biotin
• Note: Preservative Free
• Preparation and Storage: Store product at 4 degree C if to be used immediately within two weeks. For long-term storage, aliquot to avoid repeated freezing and thawing and store at -20 degree C. Aliquots are stable at -20 degree C for 12 months after receipt. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Western Blot (WB)

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

Immunohistochemistry (IHC)

(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.)

Immunofluorescence (IF)

(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).)

Related Product Information for anti-TSC1 antibody

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.

Product Categories/Family for anti-TSC1 antibody

Antibodies; Disease Markers

References

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).

NCBI and Uniprot Product Information

• NCBI GI #: 9297077
• NCBI GeneID: 7248
• UniProt Accession #: Q92574; Q5VVN5; B7Z897
• Molecular Weight: 1164
• NCBI Official Full Name: Hamartin
• NCBI Official Synonym Full Names: tuberous sclerosis 1
• NCBI Official Symbol: TSC1
• NCBI Official Synonym Symbols: LAM; TSC
• NCBI Protein Information: hamartin; tumor suppressor; tuberous sclerosis 1 protein
• UniProt Protein Name: Hamartin
• Protein Family: Hamartin
• UniProt Gene Name: TSC1
• UniProt Synonym Gene Names: KIAA0243; TSC
• UniProt Entry Name: TSC1_HUMAN

NCBI Description

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]

Uniprot Description

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; regulation of cell cycle; protein heterooligomerization; 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; positive regulation of focal adhesion formation; cell projection organization and biogenesis; 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; glucose import; 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