Molecular weight (DA)
130kD
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.
Dilution rate
WB 1:500-2000, ELISA 1:10000-20000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
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
Gene Name
TSC1 KIAA0243 TSC
Other name
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
Human protein sequence Database
Q92574
Mouse protein sequence database
Q9EP53
Rat protein sequence database
Cellular localization
Cytoplasm . Membrane ; Peripheral membrane protein . At steady state found in association with membranes. .
Tissue expression
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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