84-1151-45　Hamartin (S505) (TSC1, Tuberous Sclerosis 1 Protein, KIAA0243, TSC) 200ul　H1779-01L

特徴

• TSC1 is implicated as a tumor suppressor and may have a function in vesicular transport.
• Interaction between TSC1 and TSC2 may facilitate vesicular docking Defects in TSC1 are the cause of tuberous sclerosis complex (TSC).
• The molecular basis of TSC is a functional impairement of the hamartin-tuberin complex.
• TSC is an autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin.
• TSC 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).
• 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.
• Applications:Suitable for use in ELISA and Immunohistochemistry.
• Other applications not tested.
• Recommended Dilution:ELISA: 1:1,000Immunohistochemistry: 1:10-1:50Optimal dilutions to be determined by the researcher.
• Storage and Stability:May be stored at 4°C for short-term only.
• Aliquot to avoid repeated freezing and thawing.
• Store at -20°C.
• Aliquots are stable for at least 12 months.
• For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.