Hamartin (TSC1, Tuberous Sclerosis 1)

Tuberous sclerosis (TSC) is an autosomal dominant disease caused by mutations in one of two tumor-suppressor genes, TSC1 and TSC2, resulting in seizures, developmental delays, behavioral problems, benign hamartomas and low grade neoplasms predominantly affecting the central nervous system, kidney, skin, lung, and heart. The dysfunction of either gene products of TSC1 and TSC2, hamartin and tuberin, respectively, may cause the appearance of these tumors. Hamartin and tuberin can interact with each other to form a cytoplasmic complex. When bound, hamartin is able to inhibit the ubiquitination of tuberin, and thus, increasing the cellular level of tuberin and inhibiting cell growth.1 Hamartin also interacts with the ezrin-radixin-moesin family of actin-binding proteins. Hamartin affects cell proliferation by deregulating the G1 phase of the cell cycle.2 Inhibition of hamartin activity results in the loss of cell adhesion. Expression studies has shown that hamartin is co-localized with tuberin in most tissues, including the liver, small and large intestines, prostate, testes, and pancreas.3 However, in the central nervous system, hamartin is mainly localized along neuronal or astrocytic processes, as opposed to tuberin, which is localized to the perinuclear region of the Purkinje cell.4 These studies indicate that hamartin may be important for astrocyte growth control.\n\nApplications: \nSuitable for use in ELISA, Western Blot and Immunoprecipitation. Other applications not tested.\n\nRecommended Dilutions:\nELISA: 0.1-1ug/ml \nWestern Blot: 1-3ug/ml \nImmunoprecipitation (Native): 5-10ug/ml \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. Store at -20 degrees C. Aliquots are stable for 12 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

Size

100ug

Applications

ELISA, IP, WB

Hosts

Mouse

Reactivities

Hum

Form

Supplied as a liquid in PBS, pH 7.2, 0.1% sodium azide.

P Type

Mab

Purity

Purified by Protein A affinity chromatography.

Isotype

IgG1

References

1. Benvenuto G, et al. Oncogene. 19(54): 6306-16, 2000. 2. Miloloza A, et al. Hum Mol Genet. 9(12): 1721-7, 2000. 3. Johnson MW, et al. Mod Pathol 14(3): 202-210, 2001. 4. Gutmann DH, et al. Acta Neuropathol. 99(3): 223-30, 2000.

Additional Info

Recognizes the ~130-150kD human hamartin protein. No reactivity with the related Tuberin protein. This speci?city was con?rmed with Western Blot on both Hamartin- and Tuberin-transfected cell lysates. Reactivity was con?rmed with a Hamartin-transfected 293 cell line.