036421
Clone Type
PolyclonalHost
RabbitSource
HumanIsotype
IgGGrade
Affinity PurifiedApplications
E IF IHC WBCrossreactivity
HuGene ID
7248Gene #
TSC1Shipping Temp
Blue IceStorage Temp
-20°CRabbit Anti-Hamartin, ID (TSC1, KIAA0243, TSC, Hamartin, Tuberous sclerosis 1 protein)
TSC1, KIAA0243, TSC, Hamartin, Tuberous sclerosis 1 protein
Implicated as a tumor suppressor. 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 Western Blot, Immunohistochemistry, Immunofluorescence, ELISA
Recommended Dilution
ELISA1:1,000 Western Blot: 1:100-500 Immunohistochemistry: 1:10-50 Immunofluorescence: 1:10-50
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 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
Immunogen
TSC1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide selected from the Center region of human TSC1.
Form
Supplied as a liquid in PBS, pH 7.2, 0.09% sodium azide.
Purity
Purified by Protein A affinity chromatography.
Intended for research use only. Not for use in human, therapeutic, or diagnostic applications.
References
Wu, J., et al., J. Cutan. Pathol. 31(5):383-387 (2004).|Lewis, J.C., et al., J. Med. Genet. 41(3):203-207 (2004).|J, et al., J. Child Neurol. 19(2):102-106 (2004).|Murthy, V., et al., J. Biol. Chem. 279(2):1351-1358 (2004).|Astrinidis, A., et al., J. Biol. Chem. 278(51):51372-51379 (2003).USBio References
No references available