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Hypercholesterolemia, Familial: Disease Bioinformatics

Hypercholesterolemia (also known as high cholesterol) occurs when abnormally high levels of certain types of cholesterol are in the blood (>5.2 mmol/L). This increase of cholesterol can cause plaque buildup in the artery walls, inevitably causing damage to organs and tissues when blood flow is restricted. Borderline hypercholesterolemia is defined when levels are between 200-239 mg/dL. Hypercholesterolemia is significantly correlated with increased incidence and risk of atherosclerosis, heart attack, and stroke. Risk is increased with smoking, diabetes, high blood pressure, obesity, and poor exercise in combination with a poor diet. Nonfamilial hypercholesterolemia is the most common form as it is present in people with a susceptible genotype that is aggravated by excessive amounts of saturated fats and cholesterol. Familial hypercholesterolemia is a genetic disorder of of inherited low-density lipoprotein (LDL) cholesterol, making prevalence within a family approximately 50%. Treatments focus on reducing the risk of cardiovascular disease by decreasing blood cholesterol levels. Medications may be diagnosed to help with this process. No treatment will lead to coronary heart disease (CHD).

Top Research Reagents

We have 3464 products for the study of Hypercholesterolemia, Familial that can be applied to Chromatin Immunoprecipitation (ChIP), Flow Cytometry, Immunocytochemistry/ Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.

Fumarase Antibody
NBP1-31336
Knockdown Validated: Fumarase Antibody [NBP1-31336] - Non-transfected (-) and transfected (+) 293T whole cell extracts (30 ug) were separated by 10% SDS-PAGE, and the membrane was blotted with Fumarate hydratase antibody. HRP-conjugated anti-rabbit IgG antibody was used to detect the primary antibody.Western Blot: Fumarase Antibody [NBP1-31336] - Representative western blots showing protein expression of fumarase and key enzymes in OXPHOS. VDAC was used as a loading control (n = 3). Image collected and cropped by CiteAb from the following publication (https://www.nature.com/articles/srep22788) licensed under a CC-BY license.

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

     1 Review

1 Publication
Apolipoprotein E/ApoE Antibody (WUE-4) - BSA Free
NB110-60531
Immunohistochemistry-Paraffin: Apolipoprotein E/ApoE Antibody (WUE-4) [NB110-60531] - ApoE was detected in immersion fixed paraffin-embedded sections of human liver using anti-human mouse monoclonal antibody (Catalog # NB110-60531) at 1:200 dilution overnight at 4C. Tissue was stained using the VisuCyte anti-mouse HRP polymer detection reagent (Catalog # VC001) with DAB chromogen (brown) and counterstained with hematoxylin (blue). Images may not be copied, printed or otherwise disseminated without express written permission of Novus Biologicals a bio-techne brand.Western Blot: Apolipoprotein E/ApoE Antibody (WUE-4) [NB110-60531] - ApoE Antibody (WUE-4) [NB110-60531] - Detection of ApoE in human tissue lysate using NB110-60531. Lane 1: liver Lane 2: brain

Mouse Monoclonal
Species Human, Mouse, Rat (Negative)
Applications WB, ELISA, Flow

     2 Reviews

38 Publications
Soluble Liver/Pancreas Antigen Antibody
NBP2-20454
Western Blot: Soluble Liver/Pancreas Antigen Antibody [NBP2-20454] - Sample (30 ug of whole cell lysate) A: A431 10% SDS PAGE gel, diluted at 1:5000.Immunohistochemistry-Paraffin: Soluble Liver/Pancreas Antigen Antibody [NBP2-20454] - Paraffin-embedded colon carcinoma. SLA/LP antibody dilution: 1:500

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

1 Publication
LDLR Antibody [Unconjugated]
AF2255
Western blot shows lysates of mouse liver tissue. PVDF membrane was probed with 0.1 µg/mL of Goat Anti-Mouse LDLR Antigen Affinity-purified Polyclonal Antibody (Catalog # AF2255) followed by HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # <a class=LDL R was detected in perfusion fixed frozen sections of mouse liver using Mouse LDL R Antigen Affinity-purified Polyclonal Antibody (Catalog # AF2255) at 15 µg/mL overnight at 4 °C. Tissue was stained using the Anti-Goat HRP-DAB Cell & Tissue Staining Kit (brown; Catalog # <a class=

Goat Polyclonal
Species Mouse
Applications WB, Flow, IHC

45 Publications
Lipoprotein Lipase/LPL Antibody [Unconjugated]
AF7197
Western blot shows lysates of THP-1 human acute monocytic leukemia cell line. PVDF membrane was probed with 1 µg/mL of Goat Anti-Human/Mouse Lipoprotein Lipase/LPL Antigen Affinity-purified Polyclonal Antibody (Catalog # AF7197) followed by HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # <a class=Western blot shows lysates of SH-SY5Y human neuroblastoma cell line and NMuMG mouse mammary gland epithelial cell line. PVDF membrane was probed with 1 µg/mL of Goat Anti-Human Lipoprotein Lipase/LPL Antigen Affinity-purified Polyclonal Antibody (Catalog # AF7197) followed by HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # <a class=

Goat Polyclonal
Species Human, Mouse
Applications WB, IHC, ICC

11 Publications
Transcobalamin II Antibody
AF7895
Western blot shows lysates of HUVEC human umbilical vein endothelial cells and RPMI 8226 human multiple myeloma cell line. PVDF membrane was probed with 1 µg/mL of Sheep Anti-Human/Mouse/Rat Transcobalamin II Antigen Affinity-purified Polyclonal Antibody (Catalog # AF7895) followed by HRP-conjugated Anti-Sheep IgG Secondary Antibody (Catalog # <a class=Transcobalamin II was detected in immersion fixed paraffin-embedded sections of human kidney using Sheep Anti-Human/Mouse/Rat Transcobalamin II Antigen Affinity-purified Polyclonal Antibody (Catalog # AF7895) at 10 µg/mL overnight at 4 °C. Before incubation with the primary antibody, tissue was subjected to heat-induced epitope retrieval using Antigen Retrieval Reagent-Basic (Catalog # <a class=

Sheep Polyclonal
Species Human
Applications WB, IHC

Insulin Antibody (182410) [Unconjugated]
MAB1417
Insulin was detected in immersion fixed beta TC-6 mouse beta cell insulinoma cell line using Human/Mouse/Bovine Insulin Monoclonal Antibody (Catalog # MAB1417) at 10 µg/mL for 3 hours at room temperature. Cells were stained using the NorthernLights™ 557-conjugated Anti-Rat IgG Secondary Antibody (red; Catalog # <a class=Insulin was detected in immersion fixed paraffin-embedded sections of human pancreas using Rat Anti-Human/Mouse/Bovine Insulin Monoclonal Antibody (Catalog # MAB1417) at 0.5 µg/mL for 1 hour at room temperature followed by incubation with the Anti-Rat IgG VisUCyte™ HRP Polymer Antibody (<a class=

Rat Monoclonal
Species Human, Mouse, Bovine
Applications IHC, CyTOF-ready, ICC

24 Publications
Apolipoprotein B/ApoB Antibody (369717) [Unconjugated]
MAB4124
Western blot shows human plasma. PVDF membrane was probed with 2 µg/mL of Mouse Anti-Human Apolipoprotein B/ApoB Monoclonal Antibody (Catalog # MAB4124) followed by HRP-conjugated Anti-Mouse IgG Secondary Antibody (Catalog # <a class= Apolipoprotein B/ApoB was detected in immersion fixed paraffin-embedded sections of human liver using Mouse Anti-Human Apolipoprotein B/ApoB Monoclonal Antibody (Catalog # MAB4124) at 5 µg/mL for 1 hour at room temperature followed by incubation with the Anti-Mouse IgG VisUCyte™ HRP Polymer Antibody (Catalog # <a class=

Mouse Monoclonal
Species Human
Applications WB, Simple Western, IHC

7 Publications
CD55/DAF Antibody [Unconjugated]
AF2009
CD55/DAF was detected in immersion fixed HeLa human cervical epithelial carcinoma cell line (left panel, positive staining) and MOLT-4 human acute lymphoblastic leukemia cell line (right panel, negative staining) using Goat Anti-Human CD55/DAF Antigen Affinity-purified Polyclonal Antibody (Catalog # AF2009) at 0.5 µg/mL for 3 hours at room temperature. Cells were stained using the NorthernLights™ 557-conjugated Anti-Goat IgG Secondary Antibody (red; Catalog # <a class=CD55/DAF was detected in immersion fixed paraffin-embedded sections of human colon cancer tissue using 15 µg/mL Goat Anti-Human CD55/DAF Antigen Affinity-purified Polyclonal Antibody (Catalog # AF2009) overnight at 4 °C. Tissue was stained with the Anti-Goat HRP-DAB Cell & Tissue Staining Kit (brown; Catalog # <a class=

Goat Polyclonal
Species Human
Applications IHC, ICC

8 Publications
Complement Factor H Antibody [Unconjugated]
AF4779
Complement Factor H was detected in immersion fixed paraffin-embedded sections of human liver using Goat Anti-Human Complement Factor H Antigen Affinity-purified Polyclonal Antibody (Catalog # AF4779) at 10 µg/mL overnight at 4 °C. Before incubation with the primary antibody tissue was subjected to heat-induced epitope retrieval using Antigen Retrieval Reagent-Basic (Catalog # <a class=

Goat Polyclonal
Species Human
Applications WB, IHC

     1 Review

2 Publications
Albumin Antibody (188835) [Unconjugated] - Serum
MAB1455
Western blot shows lysate of human liver tissue. PVDF membrane was probed with 1 µg/mL of Mouse Anti-Human Serum Albumin Monoclonal Antibody (Catalog # MAB1455) followed by HRP-conjugated Anti-Mouse IgG Secondary Antibody (Catalog # <a class=Albumin was detected in immersion fixed BG01V human embryonic stem cells differentiated to hepatocytes using Mouse Anti-Human Serum Albumin Monoclonal Antibody (Catalog # MAB1455) at 10 µg/mL for 3 hours at room temperature. Cells were stained using the NorthernLights™ 557-conjugated Anti-Mouse IgG Secondary Antibody (red; Catalog # <a class=

Mouse Monoclonal
Species Human
Applications WB, Simple Western, IHC

     3 Reviews

54 Publications
Lipoprotein a Antibody (4H1) - BSA Free
NBP2-37477
Western Blot: Lipoprotein a Antibody (4H1) [NBP2-37477] - Western blot analysis using LPA mAb against human LPA recombinant protein. (Expected MW is 34.1 kDa)Immunocytochemistry/Immunofluorescence: Lipoprotein a Antibody (4H1) [NBP2-37477] - Immunofluorescence analysis of HepG2 cells using LPA mouse mAb (green). Blue: DRAQ5 fluorescent DNA dye. Red: Actin filaments have been labeled with Alexa Fluor-555 phalloidin.

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

2 Publications
Proprotein Convertase 9/PCSK9 [HRP]
MPC900
N/A Proprotein Convertase 9/PCSK9 [HRP]N/A Proprotein Convertase 9/PCSK9 [HRP]


Species Mouse
Applications ELISA

30 Publications
EGF [Unconjugated]
236-EG
Recombinant Human EGF Protein (Catalog # 236-EG) has a molecular weight (MW) of 6.7 kDa as analyzed by SEC-MALS, suggesting that this protein is a monomer.Recombinant Human EGF (Catalog # 236‑EG) stimulates cell proliferation of the Balb/3T3 mouse embryonic fibroblast cell line. The ED<sub>50</sub> for this effect is 20‑100 pg/mL.


Species Human
Applications BA

793 Publications
Thyroglobulin Antibody (2H11 + 6E1)
NBP2-34294
Immunohistochemistry-Paraffin: Thyroglobulin Antibody (2H11 + 6E1) [NBP2-34294] - Mouse thyroid tissue section stained with Thyroglobulin Antibody (2H11 + 6E1). IHC-P image submitted by a verified customer review.Immunohistochemistry-Paraffin: Thyroglobulin Antibody (2H11 + 6E1) [NBP2-34294] - Analysis using Azide/BSA FREE version of NBP2-34294. Human Thyroid stained with Thyroglobulin Ab (2H11 + 6E1).

Mouse Monoclonal
Species Human, Mouse, Rat
Applications Flow, IHC, IHC-P

     3 Reviews

1 Publication
Apolipoprotein A-I/ApoA1 Antibody - BSA Free
NBP2-52979
Immunocytochemistry/Immunofluorescence: Apolipoprotein A-I/ApoA1 Antibody - BSA Free [NBP2-52979] - HepG2 cells were fixed in 4% paraformaldehyde for 10 minutes and permeabilized in 0.05% Triton X-100 in PBS for 5 minutes. The cells were incubated with Apolipoprotein A-1/ApoA1 Antibody (NBP2-52979) at 1ug/ml overnight at 4C and detected with an anti-rabbit DyLight 488 (Green) at a 1:1000 dilution for 60 minutes. Nuclei were counterstained with DAPI (Blue). Cells were imaged using a 100X objective and digitally deconvolved.Western Blot: Apolipoprotein A-I/ApoA1 Antibody [NBP2-52979] - Western blot analysis using Apolipoprotein A-I/ApoA1 antibody. Harvested from mouse, separated on a 4-12 gradient gel by SDS-PAGE, transferred to PVDF membrane and blocked in 3% BSA/TBST. Probed with 1:8000 anti-apoA1 in 1%BSA/TBST, and detect edwith an anti-rabbit HRP secondary antibody using chemiluminescence. WB dilution 1: 8000, block before incubation overnight. Image from verified customer review.

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

     1 Review

HMG-CoA Reductase/HMGCR Antibody (JF0981)
NBP2-66888
Western Blot: HMG-CoA Reductase/HMGCR Antibody (JF0981) [NBP2-66888] - Analysis of HMGCR on different lysates. Proteins were transferred to a PVDF membrane and blocked with 5% BSA in PBS for 1 hour at room temperature. The primary antibody (ET1702-41, 1/500) was used in 5% BSA at room temperature for 2 hours. Goat Anti-Rabbit IgG - HRP Secondary Antibody (HA1001) at 1:5,000 dilution was used for 1 hour at room temperature.Positive control: Lane 1: Hela cell lysateLane 2: THP-1 cell lysateSimple Western: HMG-CoA Reductase/HMGCR Antibody (JF0981) [NBP2-66888] - SVG-A whole cell lysate. Antibody at 1:25 dilution. Image submitted by a verified customer review.

Rabbit Monoclonal
Species Human, Mouse, Rat
Applications WB, Simple Western, IHC-P

     1 Review

7 Publications
CETP Antibody (995234) [Unconjugated]
MAB10042
CETP was detected in immersion fixed paraffin-embedded sections of human liver using Mouse Anti-Human CETP Monoclonal Antibody (Catalog # MAB10042) at 3 µg/mL for 1 hour at room temperature followed by incubation with the Anti-Mouse IgG VisUCyte™ HRP Polymer Antibody (Catalog # <a class=

Mouse Monoclonal
Species Human
Applications IHC


Related Genes

Hypercholesterolemia, Familial has been researched against:

Related Pathways

Hypercholesterolemia, Familial has been linked to:

Related Diseases

Hypercholesterolemia, Familial has been studied in relation to diseases such as:

Related PTMs

Hypercholesterolemia, Familial has been studied in relation to posttranslational modifications (PTMs) including:

Alternate Names

Hypercholesterolemia, Familial is also known as Familial Hypercholesterolemia, Familial Hypercholesterolemias, Familial Hypercholesterolemic Xanthomatosis, Familial Hyperlipoproteinemia Type Ii, Hyper Beta Lipoproteinemia.