Target：Hamartin

Fields：Phospholipase D signaling pathway;Autophagy - animal;mTOR signaling pathway;PI3K-Akt signaling pathway;AMPK signaling pathway;Longevity regulating pathway;Cellular senescence;Thermogenesis;Insulin signaling pathway;Human cytomegalovirus infection;Human papillomavirus infection;Herpes simplex virus 1 infection;Choline metabolism in cancer

Gene Name：TSC1 KIAA0243 TSC

Protein Name：Hamartin

Human Gene Id：7248

Human Swiss Prot No：Q92574

Mouse Gene Id：64930

Mouse Swiss Prot No：Q9EP53

Immunogen：Synthesized peptide derived from Hamartin . at AA range: 360-440

Specificity：Hamartin Polyclonal Antibody detects endogenous levels of Hamartin

Formulation：Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

Source：Polyclonal, Rabbit,IgG

Dilution：WB 1:500-2000, ELISA 1:10000-20000

Purification：The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

Concentration：1 mg/ml

Storage Stability：-15°C to -25°C/1 year(Do not lower than -25°C)

Other Name：tuberous sclerosis 1

Observed Band(KD)：130kD

Background： This gene encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin. Mutations in this gene have been associated with tuberous sclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009],

Function：disease:Defects in TSC1 are the cause of tuberous sclerosis complex (TSC) [MIM:191100]. 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.,disease:Defects in TSC1 may be a cause of focal cortical dysplasia of Taylor balloon cell type (FCDBC) [MIM:607341]. FCDBC is a subtype of cortical displasias linked to chronic intractable epilepsy. Cortical dysplasias di

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

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