免疫原
Synthesized peptide derived from Hamartin . at AA range: 360-440
特异性
Hamartin Polyclonal Antibody detects endogenous levels of Hamartin
来源
Polyclonal, Rabbit,IgG
组成（Formulation）
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
稀释比例
WB 1:500-2000, ELISA 1:10000-20000
纯化工艺（Immunogen）
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
背景（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],
功能
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
基因名称（Gene Name）
TSC1 KIAA0243 TSC
其他名称
tuberous sclerosis 1
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
细胞定位
Cytoplasm . Membrane ; Peripheral membrane protein . At steady state found in association with membranes. .
组织表达
Highly expressed in skeletal muscle, followed by heart, brain, placenta, pancreas, lung, liver and kidney. Also expressed in embryonic kidney cells.
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