Overview

  • Product name

    Anti-Hamartin antibody [357CT4.4.2]
    See all Hamartin primary antibodies
  • Description

    Mouse monoclonal [357CT4.4.2] to Hamartin
  • Host species

    Mouse
  • Tested applications

    Suitable for: IHC-P, WBmore details
  • Species reactivity

    Reacts with: Mouse, Human
  • Immunogen

    Recombinant fragment (His-tag) corresponding to Human Hamartin aa 790-1084.
    Database link: Q92574

  • Positive control

    • Mouse brain tissue lysate; Human skeletal muscle tissue.

Properties

Applications

Our Abpromise guarantee covers the use of ab211457 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

Application Abreviews Notes
IHC-P 1/100. Perform heat mediated antigen retrieval with citrate buffer pH 6 before commencing with IHC staining protocol.
WB 1/100 - 1/250. Predicted molecular weight: 130 kDa.

Target

  • 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.
  • Information by UniProt
  • Database links

  • Alternative names

    • Hamartin antibody
    • kiaa0243 antibody
    • LAM antibody
    • TSC antibody
    • Tsc1 antibody
    • Tsc1 gene antibody
    • TSC1_HUMAN antibody
    • Tuberous sclerosis 1 antibody
    • Tuberous sclerosis 1 protein antibody
    • tumor suppressor antibody
    see all

Images

  • Immunohistochemical analysis of formalin-fixed, paraffin-embedded Human skeletal muscle tissue labeling Hamartin with ab211457 at 1/100 dilution.

  • Anti-Hamartin antibody [357CT4.4.2] (ab211457) at 1/100 dilution + Mouse brain tissue lysate at 35 µg

    Predicted band size: 130 kDa

References

ab211457 has not yet been referenced specifically in any publications.

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