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Chorea Acanthocytosis Syndrome: Disease Bioinformatics

Chorea Acanthocytosis Syndrome is a congenital neurological disorder that affects the movement and intellectual abilities of those affected. Primarily, Chorea Acanthocytosis Syndrome manifests itself with movement disabilities including chorea, involuntary muscle movements, dystonia, and myopathy in their limbs as well as in their facial muscles. In addition, Chorea Acanthocytosis Syndrome often includes a case of acanthocytosis, a condition in which a person has star-shaped red blood cells. Other symptoms include seizures, loss of appetite, behavorial issues, and difficulty learning. There is no cure for this condition, but treatment options are available to help the symptoms. Typically, a person is diagnosed with it in their early adult years, and life expectancy is often decreased. Chorea Acanthocytosis Syndrome is thought to be caused by a mutation in the VPS13A gene, and the condition is passed down in an autosomal recessive manner.

Chorea Acanthocytosis 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 Chorea Acanthocytosis 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 254 products for the study of Chorea Acanthocytosis Syndrome that can be applied to Western Blot, Chromatin Immunoprecipitation, Immunocytochemistry/Immunofluorescence, Flow Cytometry, Immunohistochemistry, Chromatin Immunoprecipitation (ChIP) from our catalog of antibodies and ELISA kits.

NBP1-85641
Immunohistochemistry-Paraffin: Chorein Antibody [NBP1-85641] - Staining of human liver shows moderate cytoplasmic positivity in hepatocytes.Immunohistochemistry-Paraffin: Chorein Antibody [NBP1-85641] - Staining of human duodenum shows moderate cytoplasmic positivity in glandular cells.

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

4 Publications
NBP1-87828
Immunocytochemistry/Immunofluorescence: XK X-linked Kx blood group Antibody [NBP1-87828] - Immunofluorescent staining of human cell line A-431 shows localization to nucleoplasm & mitochondria.Immunohistochemistry-Paraffin: XK X-linked Kx blood group Antibody [NBP1-87828] - Staining of human heart muscle shows strong cytoplasmic positivity in cardiomyocytes.

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

NBP2-75531
Western Blot: Huntingtin Antibody (JB89-34) [NBP2-75531] - Analysis of Huntingtin on A431 cell using anti-Huntingtin antibody at 1/500 dilution.Immunohistochemistry-Paraffin: Huntingtin Antibody (JB89-34) [NBP2-75531] - Analysis of paraffin-embedded rat brain tissue using anti-Huntingtin antibody. Counter stained with hematoxylin.

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

NBP1-85630
Western Blot: Choline kinase alpha Antibody [NBP1-85630] - Analysis in human cell lines SK-MEL-30 and U-251MG using anti-CHKA antibody. Corresponding CHKA RNA-seq data are presented for the same cell lines. Loading control: anti-HDAC1.Immunohistochemistry-Paraffin: Choline kinase alpha Antibody [NBP1-85630] -  Staining of human gastrointestinal shows moderate cytoplasmic positivity in glandular cells.

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

8184-CK


Species Human

NBP2-68008
Human GHRH ELISA Kit (Colorimetric) - Standard Curve Reference


Species Human

NB120-11012
Western Blot: Band 3 Antibody (BIII 136) [NB120-11012] - Human erythrocytes ghosts extract was separated on SDS-PAGE and probed with Monoclonal Anti-Band 3 Clone: BIII-136. The antibody was developed using Goat Anti-Mouse IgG-Peroxidase and AEC substrate.

Mouse Monoclonal
Species Human, Bovine (Negative), Canine (Negative)
Applications WB, ELISA, ICC/IF

NBP2-59208
Western Blot: TATA binding protein TBP Antibody (C.15200002) [NBP2-59208] - Whole cell extracts (40 ug) from HeLa cells transfected with TBP siRNA (lane 2) and from an untransfected control (lane 1) were analysed by Western blot using the antibody against TBP diluted 1:500 in TBSTween containing 5% skimmed milk. The position of the protein of interest is indicated on the right; the marker (in kDa) is shown on the left.Chromatin Immunoprecipitation Sequencing: TATA binding protein TBP Antibody (C.15200002) [NBP2-59208] - IP'd DNA was analyzed by QPCR with optimized PCR primer pairs for the promoters of the active GAPDH and c-fos genes, used as positive control targets, and for a region 1 kb upstream of the GAPDH promoter and the coding region of the inactive MB gene, used as negative control targets (A). The IP'd DNA was analyzed with an Illumina Genome Analyzer. Library preparation, cluster generation and sequencing were performed according to the manufacturer's instructions. The 36 bp tags were aligned to the human genome using the ELAND algorithm. Figure shows the peak distribution in 50 kb regions surrounding the GAPDH, c-fos, ACTB and MCL1 genes (B, C, D and E, respectively). These results clearly show a localisation of TBP at the promoters of actively transcribed genes.

Mouse Monoclonal
Species Human, Mouse
Applications WB, ChIP, ChIP

H00006532-D01P
Western Blot: SLC6A4/5-HTTLPR/Serotonin transporter Antibody [H00006532-D01P] - Analysis of SLC6A4 expression in mouse lung.Flow Cytometry: SLC6A4/5-HTTLPR/Serotonin transporter Antibody [H00006532-D01P] - Fixed and permeabilized mouse mast cells were stained for 1 hour in 4C then stained with PE secondary and ran on FACS. Image from verified customer review.

Rabbit Polyclonal
Species Human, Mouse
Applications WB, Flow

     1 Review

1 Publication
NBP2-12553
HPLC: Ceruloplasmin Native Protein [NBP2-12553]


Species Human

NBP2-30887
Immunocytochemistry/Immunofluorescence: MDR3/ABCB4 Antibody [NBP2-30887] - Staining of human cell line U-2 OS shows localization to nucleoplasm, plasma membrane & focal adhesion sites. Antibody staining is shown in green.Immunohistochemistry-Paraffin: MDR3/ABCB4 Antibody [NBP2-30887] - Staining of human liver shows strong positivity in bile canaliculi.

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

NBP1-90044
Immunocytochemistry/Immunofluorescence: ATN1 Antibody [NBP1-90044] - Staining of human cell line U-251 MG shows localization to nucleoplasm. Antibody staining is shown in green.Immunohistochemistry-Paraffin: ATN1 Antibody [NBP1-90044] - Staining of human liver shows no positivity in hepatocytes as expected.

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

1 Publication
NBP2-02677
Western Blot: PANK2 Antibody (3H9) [NBP2-02677] Analysis of extracts (35ug) from 9 different cell lines by using anti-PANK2 monoclonal antibody.Immunocytochemistry/Immunofluorescence: PANK2 Antibody (3H9) [NBP2-02677] - Staining of COS7 cells transiently transfected by pCMV6-ENTRY PANK2.

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

NBP2-56422
Immunocytochemistry/Immunofluorescence: JPH3 Antibody [NBP2-56422] - Staining of human cell line SiHa shows localization to nucleoplasm & cytosol.

Rabbit Polyclonal
Species Human
Applications ICC/IF

NB100-2288
Western Blot: BMAL1 Antibody [NB100-2288] - Analysis of BMAL1 in A) MCF7, B) NIH/3T3, C) PC12.Immunocytochemistry/Immunofluorescence: BMAL1 Antibody [NB100-2288] - BMAL1 antibody was tested in HeLa cells at a 1:200 dilution against Dylight 488 (Green). Alpha tubulin and nuclei were counterstained against DyLight 568 (Red) and DAPI (Blue), respectively.

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, ChIP, Flow

     1 Review

16 Publications
H00009630-M06
Western Blot: GNA14 Antibody (2H8) [H00009630-M06] - Analysis of GNA14 expression in transfected 293T cell line by GNA14 monoclonal antibody (M06), clone 2H8. Lane 1: GNA14 transfected lysatE (41.6 KDa). Lane 2: Non-transfected lysate.Immunohistochemistry-Paraffin: GNA14 Antibody (2H8) [H00009630-M06] - Analysis of monoclonal antibody to GNA14 on formalin-fixed paraffin-embedded human breast. Antibody concentration 3 ug/ml

Mouse Monoclonal
Species Human
Applications WB, ELISA, IHC


Related Genes

Chorea Acanthocytosis Syndrome has been researched against:

Related PTMs

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

Alternate Names

Chorea Acanthocytosis Syndrome is also known as Chorea Acanthocytosis, Chorea-acanthocytosis, Choreoacanthocytosis, Levine-critchley Syndrome, Neuroacanthocytosis.