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Rabbit Anti-Hamartin/FITC Conjugated antibody

SL15406R-FITC

Product Name: Anti-Hamartin/FITC Chinese Name: FITC标记的错构素蛋白抗体 Hamartin; kiaa0243; LAM; TSC; TSC1; Tsc1 gene; TSC1_HUMAN; Tuberous Alias: sclerosis 1; 1 . Organism Species: Rabbit Clonality: Polyclonal React Species: Human,Mouse,Rat, ICC=1:50-200IF=1:50-200 Applications: not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user. Molecular weight: 130kDa Form: Lyophilized or Liquid Concentration: 1mg/ml immunogen: KLH conjugated synthetic peptide derived from human Hamartin Lsotype: IgG Purification: affinity purified by Protein A Storage Buffer: 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storewww.sunlongbiotech.com at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year Storage: when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C. background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by mental retardation and the widespread development of distinctive tumors termed hamartomas. Two different genetic loci have been linked to TSC; one of Product Detail: these loci, the tuberous sclerosis-2 gene (TSC2), encodes a protein called tuberin and the other loci, tuberous sclerosis-1 gene (TSC1), encodes a protein called hamartin. Tuberin and hamartin interact with each other forming a cystoplasmic complex. Hamartin interacts with the ezrin-radixin-moesin (ERM) family of actin-binding and inhibition of hamartin activity results in loss of cell adhesion. Hamartin is present in most adult tissues with strong expression in brain, heart, and kidney.

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.

Subunit: Interacts with TSC2, leading to stabilize TSC2. In the absence of TSC2, TSC1 self- aggregates. Interacts with DOCK7. Interacts with FBXW5 and TBC1D7.

Subcellular Location: Cytoplasm. Membrane; Peripheral membrane protein. Note=At steady state found in association with membranes.

Tissue Specificity: Highly expressed in skeletal muscle, followed by heart, brain, placenta, pancreas, lung, liver and kidney. Also expressed in embryonic kidney cells.

Post-translational modifications: Phosphorylation at Ser-505 does not affect interaction with TSC2.

DISEASE: Tuberous sclerosis 1 (TSC1) [MIM:191100]: An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It 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 manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes. Note=The disease is caused by mutations affecting the gene represented in this entry. Focalwww.sunlongbiotech.com cortical dysplasia of Taylor balloon cell type (FCDBC) [MIM:607341]: 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 during cortical development. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Database links:

Entrez Gene: 7248 Human

Entrez Gene: 64930 Mouse Entrez Gene: 60445 Rat

Omim: 605284 Human

SwissProt: Q92574 Human

SwissProt: Q9EP53 Mouse

SwissProt: Q9Z136 Rat

Unigene: 370854 Human

Unigene: 224354 Mouse

Unigene: 205837 Rat

Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.

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