Hamartin (S505) (TSC1, Tuberous Sclerosis 1 Protein, KIAA0243, TSC) (PE)

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.\n\nApplications: \nSuitable for use in ELISA and Immunohistochemistry. Other applications not tested.\n\nRecommended Dilution:\nELISA: 1:1,000\nImmunohistochemistry: 1:10-1:50\nOptimal dilutions to be determined by the researcher.\n\nStorage and Stability:\nMay be stored at 4 degrees C for short-term only. Aliquot to avoid repeated freezing and thawing. Do not freeze R-Phycoerythrin conjugates. Light sensitive. Aliquots are stable for at least 6 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

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SPECIFICATIONS

Catalog Number

H1779-01L-PE

Size

200ul

Applications

ELISA, IHC

Hosts

Rabbit

Reactivities

Hum

Form

Supplied as a liquid in PBS, pH 7.2. Contains ~0.09% sodium azide. Conjugated to R-Phycoerythrin (R-PE).

P Type

Pab

Purity

Purified by immunoaffinity chromatography.

Isotype

IgG

References

1.Wu, J., et al., J. Cutan. Pathol. 31(5):383-387 (2004). 2.Lewis, J.C., et al., J. Med. Genet. 41(3):203-207 (2004). 3.J, et al., J. Child Neurol. 19(2):102-106 (2004). 4.Murthy, V., et al., J. Biol. Chem. 279(2):1351-1358 (2004). 5.Astrinidis, A., et al., J. Biol. Chem. 278(51):51372-51379 (2003).

Additional Info

Recognizes human TSC1.