Name : Hamartin Antibody (TSC1)
Supplier : NJS POLY
Price :199
SKU : GEN6156830662
| Category | Antibody |
| Concentration | pH 7, with 0, 09% sodium azide, 4, In 1X PBS |
| Form | Antigen affinity purified |
| Conjugation | Unconjugated |
| Clone | Polyclonal antibody |
| Recognised antigen | Hamartin (TSC1) |
| Host animal | Rabbit (Oryctolagus cuniculus) |
| Clonality | Polyclonal (rabbit origin) |
| Species reactivity | Due to limited knowledge and inability to test the antibody against all known species, we cannot guarantee that no other cross reactivity can occur, Human (Homo sapiens) |
| Tested applications | ELISA, IF, IHC, WB |
| Recommended dilutions | IHC (Paraffin): 1:10-1:50, Immunofluorescence: 1:10-1:50, Western blot: 1:1000 |
| Notes | Titration of the Hamartin antibody may be required due to differences in protocols and secondary/substrate sensitivity |
| Intented use | This Hamartin antibodyis to be used only for research purposes and not for diagnostics |
| Uniprot # | Q92574 |
| Purity | Antigen affinity |
| Description | 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, Cortical dysplasias display a broad spectrum of structural changes, Defects in TSC1 are the cause of tuberous sclerosis complex (TSC), 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, Interaction between TSC1 and TSC2 may facilitate vesicular docking, May have a function in vesicular transport, TSC is an autosomal dominant multi-system disorder that affects especially the brain, 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), The molecular basis of TSC is a functional impairement of the hamartin-tuberin complex, and apoptosis of neuronal precursors and neurons during cortical development, and skin, differentiation, heart, kidneys, migration, which appear to result from changes in proliferation, Implicated as a tumor suppressor |
| Immunogen | A portion of amino acids 401-430 from the human protein was used as the immunogen for this Hamartin antibody |
| Storage | Celcius or lower, Cycles of freezing and thawing can denaturate the peptide chains of the antibodies and reduce their sensitivity and/or change their affinity, Prepare aliqotes in such a manner so that freeze-thaw cycles are minimized, Aliquot the Hamartin antibody and store frozen at -20 deg |
| Properties | C, C for long term storage and for short term at + 5°, If you buy Antibodies supplied by NJS poly they should be stored frozen at - 24° |
| Gene target | Hamartin (TSC1) |
| Short name | Hamartin Antibody (TSC1) |
| Technique | antibodies against human proteins, antibodies for, Antibody |
| Alternative name | Hamartin (Antibody to) (TSC1) |
| Alternative technique | antibodies |
| Identity | 12362 |
| Gene | TSC1 |
| Long gene name | tuberous sclerosis 1 |
| Synonyms gene | TSC |
| Synonyms | KIAA0243 LAM hamartin |
| Locus | 9q34 |
| Discovery year | 1986-01-01 |
| GenBank acession | AF013168 |
| Pubmed identfication | 9242607 10806479 |
| Havana BLAST/BLAT | OTTHUMG00000020844 |
| Locus Specific Databases | TSC Mutation Database Tuberous sclerosis database LRG_486 |