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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.

Top Research Reagents

We have 693 products for the study of Chorea Acanthocytosis Syndrome that can be applied to Chromatin Immunoprecipitation (ChIP), Flow Cytometry, Immunocytochemistry/ Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.

Ceruloplasmin Antibody (6C3K9)
NBP3-15868
Western Blot: Ceruloplasmin Antibody (6C3K9) [NBP3-15868] - Analysis of extracts of various cell lines, using Ceruloplasmin antibody (NBP3-15868) at 1:5000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit. Exposure time: 1s.Immunohistochemistry: Ceruloplasmin Antibody (6C3K9) [NBP3-15868] - Immunofluorescence analysis of mouse liver using Ceruloplasmin Rabbit mAb (NBP3-15868) at dilution of 1:100 (40x lens). Blue: DAPI for nuclear staining.

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

BMAL1 Antibody
NB100-2288
Western Blot: BMAL1 Antibody [NB100-2288] - Oxidation causes accumulation of BMAL1. Head and neck cancer cells have different expression levels of the core clock protein BMAL1. Image collected and cropped by CiteAb from the following publication (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5173143/) licensed under a CC-BY license.Immunohistochemistry: BMAL1 Antibody [NB100-2288] - Analysis of BMAL1 in mouse cerebral cortex (left: wt, right: Bmal1 KO) using anti-BMAL1 antibody. Image from verified customer review.

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

     1 Review

71 Publications
Choline kinase alpha Antibody
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

1 Publication
Chorein Antibody
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

9 Publications
ATN1 Antibody
NBP1-90044
Immunohistochemistry-Paraffin: ATN1 Antibody [NBP1-90044] - Analysis in human cerebral cortex and liver tissues. Corresponding ATN1 RNA-seq data are presented for the same tissues.Immunocytochemistry/Immunofluorescence: ATN1 Antibody [NBP1-90044] - Staining of human cell line U-251 MG shows localization to nucleoplasm. Antibody staining is shown in green.

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

1 Publication
PANK2 Antibody (OTI3H9)
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, Mouse, Rat
Applications WB, Flow, ICC/IF

MDR3/ABCB4 Antibody
NBP2-30876
Immunohistochemistry-Paraffin: MDR3/ABCB4 Antibody [NBP2-30876] - Staining of human skeletal muscle shows no positivity in myocytes as exected.Immunohistochemistry-Paraffin: MDR3/ABCB4 Antibody [NBP2-30876] - Staining of human cerebral cortex shows no positivity in neurons as expected.

Rabbit Polyclonal
Species Human
Applications IHC, IHC-P

1 Publication
Substance P [Biotin]
KGE007
N/A Substance P [Biotin]N/A Substance P [Biotin]


Species Multi-Species
Applications ELISA

37 Publications
Band 3 Antibody
NBP2-49409
Immunohistochemistry-Paraffin: Band 3 Antibody [NBP2-49409] - Staining of human cerebral cortex shows low expression as expected.Immunohistochemistry: Band 3 Antibody [NBP2-49409] - Staining of human spleen shows strong positivity in erythrocytes.

Rabbit Polyclonal
Species Human
Applications IHC, IHC-P

Recombinant Human TATA binding protein TBP GST (N-Term) Protein
H00006908-Q01
SDS-Page: Recombinant Human TATA binding protein TBP Protein [H00006908-Q01] - 12.5% SDS-PAGE Stained with Coomassie Blue.


Species Human
Applications WB, ELISA, PA

5 Publications
SLC6A4/5-HTTLPR/Serotonin transporter Antibody
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

     1 Review

1 Publication
Choline Kinase beta [Unconjugated]
8184-CK


Species Human
Applications EnzAct

JPH3 Antibody - BSA Free
NBP2-81725
Western Blot: JPH3 Antibody [NBP2-81725] - Western blot analysis of JPH3 in Daudi cell lysate with JPH3 antibody at 1 ug/mL in (A) the absence and (B) the presence of blocking peptide.Immunocytochemistry/Immunofluorescence: JPH3 Antibody [NBP2-81725] - Immunofluorescence of JPH3 in Human Brain cells with JPH3 antibody at 20 ug/mL.

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

GHRH Antibody - Azide and BSA Free
NBP3-04850
Western Blot: GHRH Antibody [NBP3-04850] - Western blot analysis of extracts of various cell lines, using GHRH antibody (NBP3-04850) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit. Exposure time: 180s.

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

GNA14 Antibody - BSA Free
NBP3-05016
Western Blot: GNA14 Antibody [NBP3-05016] - Analysis of extracts of various cell lines, using GNA14 antibody at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL BasicImmunocytochemistry/Immunofluorescence: GNA14 Antibody [NBP3-05016] - Analysis of NIH/3T3 cells using GNA14 antibody at dilution of 1:100. Blue: DAPI for nuclear staining.

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

XK X-linked Kx blood group Antibody - Azide and BSA Free
NBP2-93011
Western Blot: XK X-linked Kx blood group Antibody [NBP2-93011] - Analysis of extracts of various cell lines, using XK X-linked Kx blood group at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit . Exposure time: 1s.Immunocytochemistry/Immunofluorescence: XK X-linked Kx blood group Antibody [NBP2-93011] - Analysis of U-2 OS cells using XK X-linked Kx blood group at dilution of 1:100. Blue: DAPI for nuclear staining.

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

Huntingtin Antibody
NBP3-13106
Western Blot: Huntingtin Antibody [NBP3-13106] - Non-transfected (-) and transfected (+) U87-MG whole cell extracts (30 ug) were separated by 5% SDS-PAGE, and the membrane was blotted with Huntingtin antibody (NBP3-13106) diluted at 1:1000.Immunocytochemistry/Immunofluorescence: Huntingtin Antibody [NBP3-13106] - Huntingtin antibody detects Huntingtin protein at cytoplasm by immunofluorescent analysis. Sample: SK-N-SH cells were fixed in 4% paraformaldehyde at RT for 15 min. Green: Huntingtin protein stained by Huntingtin antibody (NBP3-13106) diluted at 1:500. Blue: Hoechst 33342 staining. Scale bar = 10 um.

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


Related Genes

Chorea Acanthocytosis Syndrome has been researched against:

Related Pathways

Chorea Acanthocytosis Syndrome has been linked to:

Related Diseases

Chorea Acanthocytosis Syndrome has been studied in relation to diseases such as:

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.