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Tangier Disease: Disease Bioinformatics

Tangier disease or Hypoalphalipoproteinemia is a genetic disorder characterized by an extreme reduction in the quantity of high density lipoprotein or good cholesterol in the bloodstream. People with Tangier disease frequently have orange or yellow tonsils, scar-like tissue lining the arteries, an enlarged spleen and liver, and clouding of the cornea. Only 100 cases world wide of Tangier disease has been recorded. There is no treatment as of now for Tangier disease, medicines that have proven to raise HDL levels have not worked on patients with Tangier disease.

Top Research Reagents

We have 1131 products for the study of Tangier Disease that can be applied to Chromatin Immunoprecipitation, Chromatin Immunoprecipitation (ChIP), Flow Cytometry, Immunocytochemistry/ Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.

Apolipoprotein A-II/ApoA2 Antibody (5F7U1)
NBP3-16168
Western Blot: Apolipoprotein A-II/ApoA2 Antibody (5F7U1) [NBP3-16168] - Western blot analysis of extracts of Human plasma cells, using Apolipoprotein A-II/ApoA2 antibody (NBP3-16168) 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.Immunohistochemistry: Apolipoprotein A-II/ApoA2 Antibody (5F7U1) [NBP3-16168] - Analysis of mouse liver using Apolipoprotein A-II/ApoA2 Rabbit mAb (NBP3-16168) at dilution of 1:100 (40x lens). Blue: DAPI for nuclear staining.

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

PLTP Antibody
NB400-106
Western Blot: PLTP Antibody [NB400-106] - Activation of PLTP in STAT3 pathway. RA-FLS were stimulated for 24 hours with rhPLTP at the indicated concentrations. Western blot analyses analyzed cell lysates for phosphorylation of STAT3 (Tyr705). Band intensities were normalized to corresponding STAT3 band intensities. Representative Western blots are shown (n = 3).Citation: Audo R, Deckert V, Daien CI, Che H, Elhmioui J, Lemaire S, et al. (2018) PhosphoLipid transfer protein (PLTP) exerts a direct pro-inflammatory effect on rheumatoid arthritis (RA) fibroblasts-like-synoviocytes (FLS) independently of its lipid transfer activity. PLoS ONE 13(3): e0193815.Immunocytochemistry/Immunofluorescence: PLTP Antibody [NB400-106] - PLTP antibody was tested in HeLa cells with FITC (green). Nuclei and alpha-tubulin were counterstained with Dapi (blue) and Dylight 550 (red).

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

     1 Review

8 Publications
Apolipoprotein CIII Antibody
NB600-610
Immunohistochemistry-Paraffin: Apolipoprotein CIII Antibody [NB600-610] - Tissue: liver.Immunohistochemistry of Apolipoprotein CIII Antibody. Tissue: human liver. Fixation: formalin fixed paraffin embedded. Antigen retrieval: not required. Primary antibody: Apolipoprotein C-III at 2.5 ug/mL for 1 h at RT. Secondary antibody: Peroxidase goat secondary antibody at 1:10,000 for 45 min at RT. Staining: Apolipoprotein C-III as precipitated red signal with hematoxylin purple nuclear counterstain.

Goat Polyclonal
Species Human, Bovine
Applications WB, ELISA, ICC/IF

     1 Review

2 Publications
ABCB6 Antibody
NBP3-41339
Western Blot: ABCB6 Antibody [NBP3-41339] - Sample: Recombinant protein.Immunohistochemistry-Paraffin: ABCB6 Antibody [NBP3-41339] - Vector Red staining on IHC-P; Samples: Human Testis Tissue; Primary Ab: 10ug/ml NBP3-41339; Second Ab: 2ug/mL HRP-Linked Caprine Anti-Rabbit IgG Polyclonal Antibody

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

ABCA4 Antibody (3F4)
NBP1-30032
Immunohistochemistry-Frozen: ABCA4 Antibody (3F4) [NBP1-30032] - IHC-Fr of normal feline retina with antibodies ABCA4 3F4 (red) and HCAR (green). ABCA4 antibody (1:1000) labels outer segments of photoreceptors and HCAR antibody labels cones. IHC-Fr image submitted by a verified customer review.Immunohistochemistry: ABCA4 Antibody (3F4) [NBP1-30032] - staining of adult mouse retina showing specific immunolabeling of the ABCA4 protein. Photo courtesy of Mary Raven, University of California, Santa Barbara, CA.

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

     1 Review

5 Publications
ATP6V0A1 Antibody
NBP1-89342
Immunohistochemistry-Paraffin: ATP6V0A1 Antibody [NBP1-89342] - Analysis in human cerebral cortex and tonsil tissues. Corresponding ATP6V0A1 RNA-seq data are presented for the same tissues.Western Blot: ATP6V0A1 Antibody [NBP1-89342] - In Cln1-/- mice V0a1 is misrouted to plasma membrane preventing its interaction with AP-3. Pull-down assay with AP-3 antibody using total lysates from untreated (lane 1) and bromopalmitate-treated (lane 2) WT brain slices to detect V0a1 and its densitometric quantitation (n=4, *P<0.05). HEK-293 cells were transfected with WT GFP-V0a1 and GFP-V0a1-Cys25Ser mutant construct, and pull-down experiments were conducted with AP-3 antibody to detect GFP-V0a1,*P<0.05(n=4). Image collected and cropped by CiteAb from the following publication (https://www.nature.com/doifinder/10.1038/ncomms14612), licensed under a CC-BY license.

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

     1 Review

13 Publications
SR-BI Antibody - BSA Free
NB400-104
Simple Western: SR-BI Antibody [NB400-104] - Image shows a specific band for SR-BI in 0.5 mg/mL of HeLa lysate. This experiment was performed under reducing conditions using the 12-230 kDa separation system.Western Blot: SR-BI Antibody [NB400-104] - SR-BI antibody was tested in human adrenal cell lysate.

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, Simple Western, Flow

     5 Reviews

233 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

12 Publications
RFC1 Antibody [Unconjugated]
AF6457
Western blot shows lysates of Daudi human Burkitt's lymphoma cell line. Gels were loaded with 30 µg of whole cell lysate (WCL), 20 µg of cytoplasmic (Cyto), and 10 µg of nuclear extracts (Nuc). PVDF Membrane was probed with 1 µg/mL of Sheep Anti-Human RFC1 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF6457) followed by HRP-conjugated Anti-Sheep IgG Secondary Antibody (Catalog # <a class=

Sheep Polyclonal
Species Human
Applications WB

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
RFC2 Antibody (OTI2B2)
NBP2-45570
Western Blot: RFC2 Antibody (2B2) [NBP2-45570] - Analysis of HEK293T cells were transfected with the pCMV6-ENTRY control (Left lane) or pCMV6-ENTRY RFC2.Immunohistochemistry: RFC2 Antibody (2B2) [NBP2-45570] - Analysis of Adenocarcinoma of Human endometrium tissue.

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

RFC4 Antibody (OTI1A8)
NBP2-45946
Western Blot: RFC4 Antibody (OTI1A8) [NBP2-45946] - Analysis of HEK293T cells were transfected with the pCMV6-ENTRY control (Left lane) or pCMV6-ENTRY RFC4.Immunocytochemistry/Immunofluorescence: RFC4 Antibody (OTI1A8) [NBP2-45946] - Analysis of COS7 cells transiently transfected by pCMV6-ENTRY RFC4.

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

Apolipoprotein A-IV/ApoA4 Antibody (CL0468)
NBP2-52932
Immunohistochemistry-Paraffin: Apolipoprotein A-IV/ApoA4 Antibody (CL0468) [NBP2-52932] - Analysis in human small intestine and pancreas tissues using NBP2-52932 antibody. Corresponding APOA4 RNA-seq data are presented for the same tissues.Western Blot: Apolipoprotein A-IV/ApoA4 Antibody (CL0468) [NBP2-52932] - Lane 1: Marker [kDa], Lane 2: Human plasma

Mouse Monoclonal
Species Human
Applications WB, IHC, IHC-P

     1 Review

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

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

ABCA1 Antibody - BSA Free
NB400-105
Formalin-fixed paraffin-embedded tissue sections of human prostate cancer were probed for ABCA1 mRNA (ACD RNAScope Probe, catalog # 432291; Fast Red chromogen, ACD catalog # 322360). Adjacent tissue section was processed for immunohistochemistry using rabbit polyclonal (Novus Biologicals catalog # NB400-105) at 1.5ug/mL with overnight incubation at 4 degrees Celsius followed by incubation with anti-rabbit IgG VisUCyte HRP Polymer Antibody (Catalog # VC003) and DAB chromogen (yellow-brown). Tissue was counterstained with hematoxylin (blue). Specific staining was localized to glandular cells.HSKMCs were transfected with scrambled siRNA (scr siRNA) or ABCA1 siRNA. The cells were lysed and ABCA1 (A) protein levels were quantified by immunoblotting. Image collected and cropped by CiteAb from the following publication (https://www.nature.com/articles/s41598-018-38014-3) licensed under under a CC-BY license.

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, Simple Western, ChIP

     7 Reviews

408 Publications
LCAT Antibody
NBP1-05950
Western Blot: LCAT Antibody [NBP1-05950] - Analysis of plasma LCAT protein mass. Plasma samples (0.2ul) from four hA-I Tg mice, four hA-I Tg SR-BI -/- mice, a LCAT-/- mouse, and purified mouse LCAT were fractionated on SDS-PAGE, and LCAT was detected by Western blot analysis using rabbit antiserum against mouse LCAT.Immunocytochemistry/Immunofluorescence: LCAT Antibody [NBP1-05950] - The LCAT antibody was tested at a 1:500 dilution in HeLa cells against Dylight 488 (Green). Alpha-tubulin and nuclei were counterstained against Dylight 550 (Red) and DAPI (Blue).

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

     1 Review

3 Publications

Related Genes

Tangier Disease has been researched against:

Related Pathways

Tangier Disease has been linked to:

Related Diseases

Tangier Disease has been studied in relation to diseases such as:

Related PTMs

Tangier Disease has been studied in relation to posttranslational modifications (PTMs) including:

Alternate Names

Tangier Disease is also known as tangier disease, familial high density lipoprotein deficiency disease, familial hypoalphalipoproteinemia, familial hdl deficiency, carbamoyl-phosphate synthase i deficiency disease, high density lipoprotein deficiency, tangier type, lipoprotein deficiency disease, hdl, familial, familial high density lipoprotein deficiency, high density lipoprotein deficiency, type 1, familial alpha-lipoprotein deficiency, hypoalphalipoproteinemia, familial, familial lipoprotein deficiency, analphalipo-proteinemia, analphalipoproteinemia, hdldt1.