• Product nameAnti-Hamartin antibody
    See all Hamartin primary antibodies
  • Description
    Goat polyclonal to Hamartin
  • SpecificityExpected to recognize isoform 1 only.
  • Tested applicationsSuitable for: ELISA, WBmore details
  • Species reactivity
    Reacts with: Human
    Predicted to work with: Mouse, Rat, Dog, Chimpanzee, Macaque monkey
  • Immunogen

    Synthetic peptide:


    , corresponding to C terminal amino acids 1150-1163 of Human Hamartin isoform 1.

  • Positive control
    • Human brain lysates.



Our Abpromise guarantee covers the use of ab48028 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
  • Application notesELISA: 1/128,000 (detection limit).
    WB: Use at a concentration of 0.1 - 0.3 µg/ml. Detects a band of approximately 150 kDa (predicted molecular weight: 130 kDa).

    Not yet tested in other applications.
    Optimal dilutions/concentrations should be determined by the end user.
  • Target

    • FunctionIn 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 specificityHighly expressed in skeletal muscle, followed by heart, brain, placenta, pancreas, lung, liver and kidney. Also expressed in embryonic kidney cells.
    • Involvement in diseaseDefects 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.
    • DomainThe C-terminal putative coiled-coil domain is necessary for interaction with TSC2.
    • Post-translational
      Phosphorylation at Ser-505 does not affect interaction with TSC2. Phosphorylated upon DNA damage, probably by ATM or ATR.
    • Cellular localizationCytoplasm. 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

    Anti-Hamartin antibody images

    • Anti-Hamartin antibody (ab48028) at 0.1 µg/ml + 35µg Human brain lysate in RIPA buffer

      anti-goat-HRP at a 1/3000 dilution
      Developed using the ECL technique

      Predicted band size : 130 kDa
      Observed band size : 150 kDa (why is the actual band size different from the predicted?)

    References for Anti-Hamartin antibody (ab48028)

    ab48028 has not yet been referenced specifically in any publications.

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