Recombinant Human Hamartin protein (ab152772)
Key features and details
- Expression system: Wheat germ
- Suitable for: WB, SDS-PAGE, ELISA
Description
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Product name
Recombinant Human Hamartin protein -
Expression system
Wheat germ -
Accession
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Protein length
Protein fragment -
Animal free
No -
Nature
Recombinant -
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Species
Human -
Sequence
LKKPGHVAEVYLVHLHASVYALFHRLYGMYPCNFVSFLRSHYSMKENLET FEEVVKPMMEHVRIHPELVTGSKDHELDPRRWKRLETHDVVIECAKISLD PTEASYEDG -
Predicted molecular weight
38 kDa including tags -
Amino acids
166 to 274
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Specifications
Our Abpromise guarantee covers the use of ab152772 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
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Applications
Western blot
SDS-PAGE
ELISA
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Form
Liquid -
Additional notes
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Concentration information loading...
Preparation and Storage
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Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00
Constituents: 0.31% Glutathione, 0.79% Tris HCl
General Info
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Alternative names
- Hamartin
- kiaa0243
- LAM
see all -
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
modificationsPhosphorylation 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. - Information by UniProt
Protocols
To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.
Datasheets and documents
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Datasheet download
References (0)
ab152772 has not yet been referenced specifically in any publications.