概述

描述

  • 性质Synthetic
  • 氨基酸序列
    • 种属Human

相关产品

技术指标

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.

  • 应用

    Blocking - Blocking peptide for Anti-Hamartin antibody (ab25882)

  • 形式Liquid
  • Concentration information loading...

制备和贮存

  • 稳定性和存储

    Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.

    Preservative: 0.02% Sodium Azide
    Constituents: 0.1% BSA, PBS, pH 7.2

常规信息

  • 别名
    • Hamartin
    • kiaa0243
    • LAM
    • TSC
    • Tsc1
    • Tsc1 gene
    • TSC1_HUMAN
    • Tuberous sclerosis 1
    • Tuberous sclerosis 1 protein
    • tumor suppressor
    see all
  • 功能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.
  • 组织特异性Highly expressed in skeletal muscle, followed by heart, brain, placenta, pancreas, lung, liver and kidney. Also expressed in embryonic kidney cells.
  • 疾病相关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.
  • 结构域The C-terminal putative coiled-coil domain is necessary for interaction with TSC2.
  • 翻译后修饰Phosphorylation at Ser-505 does not affect interaction with TSC2. Phosphorylated upon DNA damage, probably by ATM or ATR.
  • 细胞定位Cytoplasm. Membrane. At steady state found in association with membranes.
  • Information by UniProt

Human Hamartin peptide (ab39892)参考文献

ab39892 has not yet been referenced specifically in any publications.

Product Wall

There are currently no Abreviews or Questions for ab39892.
Please use the links above to contact us or submit feedback about this product.

Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"