Overview

  • Product nameAnti-Hamartin antibody
    See all Hamartin primary antibodies
  • Description
    Goat polyclonal to Hamartin
  • Tested applicationsSuitable for: ELISA, WB, IHC-Pmore details
  • Species reactivity
    Reacts with: Human
    Predicted to work with: Mouse, Rat, Dog
  • Immunogen

    Synthetic peptide:

    QLHIMDYNETHHEH

    by a Cysteine residue linker, corresponding to C terminal amino acids 1150-1163 of Human Hamartin.

  • Positive control
    • Human liver and uterus tissues; Human brain lysate.

Properties

Applications

Our Abpromise guarantee covers the use of ab111981 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
ELISA 1/128000.
WB Use a concentration of 0.1 - 0.3 µg/ml. Predicted molecular weight: 130 kDa.
IHC-P Use a concentration of 3.75 µg/ml.

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
    modifications
    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

  • ab111981, at 3.75µg/ml, staining Hamartin in Formalin-fixed, Paraffin-embedded Human Liver tissue by Immunohistochemistry.
  • ab111981, at 3.75µg/ml, staining Hamartin in Formalin-fixed, Paraffin-embedded Human Uterus tissue by Immunohistochemistry.
  • Anti-Hamartin antibody (ab111981) at 0.1 µg/ml + Human Brain lysate (in RIPA buffer) at 35 µg
    Developed using the ECL technique

    Predicted band size : 130 kDa

References for Anti-Hamartin antibody (ab111981)

ab111981 has not yet been referenced specifically in any publications.

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