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Timothy Syndrome: Disease Bioinformatics

Timothy Syndrome is rare genetic disorder that causes serious complications in the heart and nervous system. Timothy syndrome is diagnosed within days of birth when the infant begins to show symptoms including hypoxia, congenital heart defects such as arrhythmia, webbing between fingers or toes, and facial anomalies. Later, symptoms such as weakened immune system, developmental delays, and autism may appear. Timothy syndrome is caused by a mutation in the gene CACNAC1C, which is located on chromosome 12 and is involved in controlling calcium channels in tissues such as the immune system, the brain, and cardiac muscle cells. The average age of death in individuals with Timothy syndrome is approximately 3 years, but some individuals have survived into their teenage years. Currently, treatment for Timothy syndrome is different for each affected individual, but the main priority of all treatment is to maintain cardiac normality.

Timothy Syndrome Bioinformatics Tool

Laverne is a handy bioinformatics tool to help facilitate scientific exploration of related genes, diseases and pathways based on co-citations. Explore more on Timothy Syndrome below! For more information on how to use Laverne, please read the How to Guide.
Vizit™, under license from BioVista Inc.

Top Research Reagents

We have 344 products for the study of Timothy Syndrome that can be applied to Western Blot, Immunocytochemistry/Immunofluorescence, Flow Cytometry, Immunohistochemistry from our catalog of antibodies and ELISA kits.

NBP1-22439
Western Blot: Cav1.2 Antibody (S57-46) [NBP1-22439] - analysis of Hamster T-CHO cell lysate showing detection of CaV1.2 Calcium Channel protein using Mouse Anti-CaV1.2 Calcium Channel Monoclonal Antibody, Clone S57-46. Primary Antibody: Mouse Anti-CaV1.2 Calcium Channel Monoclonal Antibody at 1:1000.Immunocytochemistry/Immunofluorescence: Cav1.2 Antibody (S57-46) [NBP1-22439] -  Tissue: SK-N-BE Cells (Human Neuroblastoma cells). Species: Human. Fixation: 4% Formaldehyde for 15 min at RT. Primary Antibody: Mouse Anti-Cav1.2 Monoclonal Antibody at 1:100 for 60 min at RT. Secondary Antibody: Goat Anti-Mouse ATTO 488 at 1:200 for 60 min at RT. Counterstain: Phalloidin Texas Red F-Actin stain; DAPI (blue) nuclear stain at 1:1000, 1:5000 for 60 min at RT, 5 min at RT. Localization: Cell Membrane, Membrane, Cytoplasm, Nucleoplasm. Magnification: 60X. (A) Phalloidin Texas Red F-Actin stain; DAPI (blue) nuclear stain.

Mouse Monoclonal
Species Human, Mouse, Rabbit
Applications WB, ICC/IF, IHC

1 Publication
NBP2-02710
Western Blot: Thromboxane synthase Antibody (2C1) [NBP2-02710] Analysis of extracts (35ug) from 9 different cell lines by using anti-Thromboxane synthase monoclonal antibody.Immunocytochemistry/Immunofluorescence: Thromboxane synthase Antibody (2C1) [NBP2-02710] - Staining of COS7 cells transiently transfected by pCMV6-ENTRY Thromboxane synthase.

Mouse Monoclonal
Species Human, Rat
Applications WB, Flow, ICC/IF

NBP2-34390

Mouse Monoclonal
Species Human
Applications WB, Flow, ICC/IF

     1 Review

NBP2-12897
Western Blot: Kv7.1 Antibody (S37A-10) [NBP2-12897] - analysis of hamster T-CHO cell lysate showing detection of KCNQ1 protein using Mouse Anti-KCNQ1 Monoclonal Antibody, Clone S37A-10. Load: 15 ug protein. Block: 1.5% BSA for 30 minutes at RT. Primary Antibody: Mouse Anti-KCNQ1 Monoclonal Antibody at 1:1000 for 2 hours at RT. Secondary Antibody: Sheep Anti-Mouse IgG: HRP for 1 hour at RT.Immunohistochemistry: Kv7.1 Antibody (S37A-10) [NBP2-12897] - Tissue: hippocampus. Species: Human. Fixation: Bouin's Fixative and paraffin-embedded. Primary Antibody: Mouse Anti-KCNQ1 Monoclonal Antibody  at 1:1000 for 1 hour at RT. Secondary Antibody: FITC Goat Anti-Mouse (green) at 1:50 for 1 hour at RT.

Mouse Monoclonal
Species Human, Mouse, Rat
Applications WB, ICC/IF, IHC

NB100-1595
Western Blot: Ribosomal Protein S6/RPS6 Antibody [NB100-1595] - Detection of Human RPS6 on HeLa whole cell lysate using NB100-1595. RPS6 was also immunoprecipitated using rabbit anti-RPS6 antibodies NB100-1594 and another RPS6 Ab.Immunohistochemistry: Ribosomal Protein S6/RPS6 Antibody [NB100-1595] - Sample: FFPE section of human lung carcinoma. Antibody: Affinity purified rabbit anti- RPS6 used at a dilution of 1:200 (1ug/ml). Detection: DAB

Rabbit Polyclonal
Species Human, Mouse
Applications WB, IHC, IHC-P

     1 Review

2 Publications
NBP1-87799
Western Blot: Tbp7 Antibody [NBP1-87799] - Western blot analysis in mouse cell line NIH-3T3, rat cell line NBT-II and rat cell line pC12.Immunocytochemistry/Immunofluorescence: Tbp7 Antibody [NBP1-87799] - Staining of human cell line U-251 MG shows localization to nucleoplasm. Antibody staining is shown in green.

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, ICC/IF, IHC

1 Publication
NBP2-38713
Western Blot: AKAP5 Antibody [NBP2-38713] - Lane 1: Marker  [kDa] 250, 130, 95, 72, 55, 36, 28, 17, 10.  Lane 2: Human cell line RT-4Immunohistochemistry-Paraffin: AKAP5 Antibody [NBP2-38713] - Staining of human pancreas shows low expression as expected.

Rabbit Polyclonal
Species Human
Applications WB, IHC, IHC-P

H00000778-A01
Western Blot: Cav1.4 Antibody [H00000778-A01] - Detection against Immunogen (37.11 KDa).

Mouse Polyclonal
Species Human, Rat
Applications WB, ELISA, ICC/IF

1 Publication
NBP2-19997
Western Blot: PTBP2 Antibody [NBP2-19997] - A. 30 ug H1299 whole cell lysate/extract B. 30 ug HCT116 whole cell lysate/extract 7.5 % SDS-PAGE PTBP2 antibody [C1C3]  dilution: 1:1000Immunohistochemistry-Paraffin: PTBP2 Antibody [NBP2-19997] -  Paraffin-embedded mouse middle brain. PTBP2 antibody [C1C3]  dilution: 1:1000.

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, IHC, IHC-P

NB110-5029
Western Blot: Caveolin-3 Antibody [NB110-5029] - Analysis of rat cardiac muscle protein extract.Immunocytochemistry/Immunofluorescence: Caveolin-3 Antibody [NB110-5029] - C2C11 cells were grown on chamber slides and fixed with formaldehyde prior to staining. Cells were probed without (control) or with a Caveolin 3 polyclonal antibody at a dilution of 1:20 overnight at 4 C, washed with PBS and incubated with a DyLight-488 conjugated secondary antibody and nuclei with DAPI (blue) is shown.

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, Flow, ICC/IF

1 Publication
NB110-61010
Immunocytochemistry/Immunofluorescence: Nav1.5 Antibody (4G8-1G7) [NB110-61010] - Figure A: Plasma membrane localisation of Nav1.5 identified by 4G8:1G7 detected by anti-mouse Alexa Fluor-488 conjugated antibody; Figure B, DAP1 co-staining of cell nucleiFlow Cytometry: Nav1.5 Antibody (4G8:1G7) [NB110-61010] - An intracellular stain was performed on U2OS cells with Nav1.5 Antibody [4G8:1G7] NB110-61010PE (blue) and a matched isotype control (orange). Cells were fixed with 4% PFA and then permeablized with 0.1% saponin. Cells were incubated in an antibody dilution of 2.5 ug/mL for 30 minutes at room temperature. Both antibodies were conjugated to Phycoerythrin.

Mouse Monoclonal
Species Human
Applications WB, ELISA, Flow

NBP2-58876
Immunocytochemistry/Immunofluorescence: Scn1a Antibody [NBP2-58876] - Staining of human cell line ASC TERT1 shows localization to nucleoplasm & plasma membrane. Antibody staining is shown in green.

Rabbit Polyclonal
Species Human
Applications ICC/IF

NBP2-66296


Species Human

NB120-2860
Western Blot: Calmodulin Antibody (2D1) [NB120-2860] - Purified Calmodulin using NB120-2860 and NB120-5494.Immunocytochemistry/Immunofluorescence: Calmodulin Antibody (2D1) [NB120-2860] - Staining of rat brain.

Mouse Monoclonal
Species Human, Mouse, Rat
Applications WB, ELISA, Flow

NBP1-98474
Western Blot: Calmodulin 3 Antibody [NBP1-98474] - Human Jurkat, Antibody Dilution: 1.0 ug/ml CALM3 is strongly supported by BioGPS gene expression data to be expressed in Jurkat.Western Blot: Calmodulin 3 Antibody [NBP1-98474] - Titration: 1.0 ug/ml Positive Control: Hela Whole Cell.

Rabbit Polyclonal
Species Human
Applications WB

NBP2-38049
Immunocytochemistry/Immunofluorescence: CACNA1A Antibody [NBP2-38049] - Immunofluorescent staining of human cell line BJ shows localization to nucleoplasm & the Golgi apparatus.Immunohistochemistry-Paraffin: CACNA1A Antibody [NBP2-38049] - Staining of human pancreas shows low expression as expected.

Rabbit Polyclonal
Species Human
Applications ICC/IF, IHC, IHC-P

NB120-2864
Western Blot: CACNA2D1 Antibody (20A) [NB120-2864] - Primary antibody dilution- 1:1000 for 2 Hours at RT, in blocking buffer, 5% Milk in TBS-0.05% Tween : Blocking Overnight at +4 degree C. Secondary antibody : 1:2000 in blocking buffer, 1 hour at RT. Image from verified customer review.Immunocytochemistry/Immunofluorescence: CACNA2D1 Antibody (20A) [NB120-2864] - Cells were grown on chamber slides and fixed with formaldehyde prior to staining. Cells were probed without (control) or with a Dihydropyridine Receptor alpha-2 monoclonal antibody at a dilution of 1:100 overnight at 4 C, washed with PBS and incubated with a DyLight-488 conjugated secondary antibody and nuclei with DAPI (blue) is shown.

Mouse Monoclonal
Species Human, Mouse, Rat
Applications WB, Flow, ICC/IF

     1 Review

8 Publications
NB300-542
Immunohistochemistry-Paraffin: CACNA1S Antibody (1A) [NB300-542] - Immunohistochemistry was performed on normal biopsies of deparaffinized human skeletal muscle tissue.Flow Cytometry: CACNA1S Antibody (1A) [NB300-542] - Flow cytometry analysis of Dihydropyridine Receptor alpha-1 in U251 cells (green) compared to an isotype control (blue). Cells were harvested, adjusted to a concentration of 1-5x10^6 cells/ml, fixed with 2% paraformaldehyde and washed with PBS.

Mouse Monoclonal
Species Human, Mouse, Rat
Applications WB, Flow, IHC

1 Publication
NBP1-90091
Immunohistochemistry-Paraffin: Ryanodine Receptor 2 Antibody [NBP1-90091] - Staining of human cerebral cortex shows distinct cytoplasmic positivity in neuronal cells.

Rabbit Polyclonal
Species Human
Applications IHC, IHC-P


Related Genes

Timothy Syndrome has been researched against:

Related PTMs

Timothy Syndrome has been studied in relation to posttranslational modifications (PTMs) including:

Alternate Names

Timothy Syndrome is also known as timothy syndrome, long qt syndrome with syndactyly, lqt8, long qt syndrome 8, long qt syndrome, ts.