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Product name
Hamartin peptide
See all Hamartin products (5) ...
Protein description
15 amino acids near the centre of human Hamartin (TSC1).
Properties
Form
Liquid
Storage instructions
Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.
Storage buffer
Preservative: 0.02% Sodium Azide
Constituents: 0.1% BSA, PBS, pH 7.2
Concentration
Concentration information loading...
Research areas
Metabolism >> Types of disease >> Obesity
Cancer >> Cell cycle >> Cell cycle inhibitors >> Other
Epigenetics and Nuclear Signaling >> Transcription >> Cancer susceptibility >> Tumor Suppressors
Cell Biology >> Cell Cycle >> Cell Cycle Inhibitors >> Other
Applications
Show applications key
Our Abpromise guarantee covers the use of ab39892 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Blocking
Application notes
BL: Use at an assay dependent dilution.
Peptide usually blocks the antibody activity completely in Western blot by incubating the peptide with equal volume of antibody for 30 min at 37°C.
Not yet tested in other applications.
Optimal dilutions/concentrations should be determined by the end user.
Protein info
Function
In complex with TSC2, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Seems not to be required for TSC2 GAP activity towards RHEB. Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling.
Tissue specificity
Highly expressed in skeletal muscle, followed by heart, brain, placenta, pancreas, lung, liver and kidney. Also expressed in embryonic kidney cells.
Involvement in disease
Defects in TSC1 are the cause of tuberous sclerosis type 1 (TSC1) [MIM:191100]. It is an autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. TS1C 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) [MIM:607341]. 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.
Domain
The C-terminal putative coiled-coil domain is necessary for interaction with TSC2.
Post-translational
modifications
Phosphorylation at Ser-505 does not affect interaction with TSC2. Phosphorylated upon DNA damage, probably by ATM or ATR.
Cellular localization
Cytoplasm. Membrane. At steady state found in association with membranes.
Target information above from: UniProt accessionQ92574
The UniProt Consortium
The Universal Protein Resource (UniProt) in 2010
Nucleic Acids Res. 38:D142-D148 (2010).
References for Hamartin peptide (ab39892)
ab39892 has not yet been referenced specifically in any publications.
Publishing research using ab39892? Please let us know so that we can cite the reference in this datasheet
Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"