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Achromatopsia: Disease Bioinformatics

Research of Achromatopsia has been linked to Color Vision Defect, Blind Vision, Nystagmus, Color Blindness, Retinal Diseases. The study of Achromatopsia has been mentioned in research publications which can be found using our bioinformatics tool below. Researched pathways related to Achromatopsia include Phototransduction, Localization, Translation, Cell Death, Visual Perception. These pathways complement our catalog of research reagents for the study of Achromatopsia including antibodies and ELISA kits against CNGA3, KCNH2, ERG, CNGB3, GNAT2.

Top Research Reagents

We have 3159 products for the study of Achromatopsia that can be applied to Chromatin Immunoprecipitation, Flow Cytometry, Immunocytochemistry/ Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.

Exosome component 10 Antibody
NBP1-32870
Western Blot: Exosome component 10 Antibody [NBP1-32870] - Non-transfected (-) and transfected (+) 293T whole cell extracts (30 ug) were separated by 7.5% SDS-PAGE, and the membrane was blotted with EXOSC10 antibody diluted at 1:5000. The HRP-conjugated anti-rabbit IgG antibody (NBP2-19301) was used to detect the primary antibody.Immunohistochemistry-Paraffin: Exosome component 10 Antibody [NBP1-32870] - Paraffin-embedded Cal27 xenograft, using antibody at 1:100 dilution.

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

     2 Reviews

3 Publications
Peripherin 2/PRPH2 Antibody
NBP1-86687
Western Blot: Peripherin 2/PRPH2 Antibody [NBP1-86687] - Analysis in control (vector only transfected HEK293T lysate) and PRPH2 over-expression lysate (Co-expressed with a C-terminal myc-DDK tag (3.1 kDa) in mammalian HEK293T cells).Immunohistochemistry-Paraffin: Peripherin 2/PRPH2 Antibody [NBP1-86687] - Staining of human liver shows no positivity in hepatocytes as expected.

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

Clathrin light chain + heavy chain Antibody
NBP1-05035
Western Blot: Clathrin light chain + heavy chain Antibody [NBP1-05035] - (0.1ug/ml) staining of Human Frontal Cortex lysate (35ug protein in RIPA buffer). Detected by chemiluminescence.Immunohistochemistry-Paraffin: Clathrin light chain + heavy chain Antibody [NBP1-05035] - (2.5ug/ml) staining of paraffin embedded Human Spleen. Steamed antigen retrieval with citrate buffer pH 6, AP-staining.

Goat Polyclonal
Species Human, Rat
Applications WB, IHC, IHC-P

3 Publications
CD45 Antibody [Unconjugated]
AF114
CD45 was detected in immersion fixed RAW 264.7 mouse monocyte/macrophage cell line (positive staining) and Neuro‑2A mouse neuroblastoma cell line (negative staining) using Goat Anti-Mouse CD45 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF114) at 5 µg/mL for 3 hours at room temperature. Cells were stained using the NorthernLights™ 557-conjugated Anti-Goat IgG Secondary Antibody (red; <a class= CD45 was detected in immersion fixed paraffin-embedded sections of mouse liver using Goat Anti-Mouse CD45 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF114) at 3 µg/mL for 1 hour at room temperature followed by incubation with the Anti-Goat IgG VisUCyte™ HRP Polymer Antibody (Catalog # <a class=

Goat Polyclonal
Species Mouse
Applications WB, Flow, IHC

     1 Review

66 Publications
Plexin A2 Antibody [Unconjugated]
AF5486
Western blot shows lysates of bEnd.3 mouse endothelioma cell line and rat embryonic cortical neuron cells. PVDF Membrane was probed with 1 µg/mL of Goat Anti-Human/Mouse/Rat Plexin A2 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF5486) followed by HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # <a class=<P align=left>bEnd.3 mouse endothelioma cell line was stained with Goat Anti-Human/Mouse/Rat Plexin A2 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF5486, filled histogram) or isotype control antibody (Catalog # <A class=NoLineLink href=

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

4 Publications
BCMA/TNFRSF17 Antibody [Unconjugated]
AF193
U266 human myeloma cell line was stained with Goat Anti-Human/Primate BCMA/<br>TNFRSF17 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF193, filled histogram) or isotype control antibody (Catalog # <a class=

Goat Polyclonal
Species Human
Applications WB, ELISA, Flow

     1 Review

7 Publications
PNR/NR2E3 Antibody (H7223)
PP-H7223-00
Coexpression of Rxrg and Nr2e3 in the embryonic mouse retina. (A-H) E14.5 mouse retinas electroporated with either the cNr2e3Enh2 or cNr2e3Enh3 plasmid, cultured ex vivo for 2 days, and processed for immunofluorescence confocal imaging of EGFP (green, chicken antibody), Nr2e3 (red, mouse antibody), Rxrg (white, rabbit antibody), and DAPI. Panels in A-H represent maximum projections of z-stacks with the depicted channel shown at the top of the column. The merge column has EGFP, Nr2e3, and Rxrg signals. (A’-H’) Magnified single z-plane images with the signals for (A’,E’) EGFP, (B’,F’) Nr2e3, (C’,G’) Rxrg, and (D’,H’) DAPI. White arrows point to GFP+ cells that also express Nr2e3 and Rxrg. Yellow arrows point to GFP+ cells that express Rxrg, but not Nr2e3. (I) A graph of the average percentage of GFP+ cells when driven by the cNr2e3Enh2 or cNr2e3Enh3 elements that express Nr2e3, Rxrg, or both Nr2e3 and Rxrg. (J-L) Maximum projection of a z-stack image of a E17.5 mouse retina processed for immunofluorescent detection of Nr2e3 (J, green) and Rxrg (K, red) or both (L, Merge). (J’-L’) Magnified single z-plane images of the same area visualized for signals for Nr2e3 (J’), Rxrg (K’), or DAPI (L’). (M) A graph of the average percentage of Nr2e3, Rxrg double-positive (D.P.) cells out of the total Nr2e3+ population (left bar) or the total Rxrg+ population (right bar). In both graphs N ≥ 3 biological replicates. Error bars represent standard error of the mean. All images are oriented with the scleral side of the retina at the top of the image. Scale bar in A represents 20 μm and applies to A-L. Image collected and cropped by CiteAb from the following publication (https://pubmed.ncbi.nlm.nih.gov/30466480), licensed under a CC-BY license. Not internally tested by R&D Systems.Coexpression of Rxrg and Nr2e3 in the embryonic mouse retina. (A-H) E14.5 mouse retinas electroporated with either the cNr2e3Enh2 or cNr2e3Enh3 plasmid, cultured ex vivo for 2 days, and processed for immunofluorescence confocal imaging of EGFP (green, chicken antibody), Nr2e3 (red, mouse antibody), Rxrg (white, rabbit antibody), and DAPI. Panels in A-H represent maximum projections of z-stacks with the depicted channel shown at the top of the column. The merge column has EGFP, Nr2e3, and Rxrg signals. (A’-H’) Magnified single z-plane images with the signals for (A’,E’) EGFP, (B’,F’) Nr2e3, (C’,G’) Rxrg, and (D’,H’) DAPI. White arrows point to GFP+ cells that also express Nr2e3 and Rxrg. Yellow arrows point to GFP+ cells that express Rxrg, but not Nr2e3. (I) A graph of the average percentage of GFP+ cells when driven by the cNr2e3Enh2 or cNr2e3Enh3 elements that express Nr2e3, Rxrg, or both Nr2e3 and Rxrg. (J-L) Maximum projection of a z-stack image of a E17.5 mouse retina processed for immunofluorescent detection of Nr2e3 (J, green) and Rxrg (K, red) or both (L, Merge). (J’-L’) Magnified single z-plane images of the same area visualized for signals for Nr2e3 (J’), Rxrg (K’), or DAPI (L’). (M) A graph of the average percentage of Nr2e3, Rxrg double-positive (D.P.) cells out of the total Nr2e3+ population (left bar) or the total Rxrg+ population (right bar). In both graphs N ≥ 3 biological replicates. Error bars represent standard error of the mean. All images are oriented with the scleral side of the retina at the top of the image. Scale bar in A represents 20 μm and applies to A-L. Image collected and cropped by CiteAb from the following publication (https://pubmed.ncbi.nlm.nih.gov/30466480), licensed under a CC-BY license. Not internally tested by R&D Systems.

Mouse Monoclonal
Species Human
Applications WB, IHC, DirELISA

11 Publications
LIGHT/TNFSF14 [Unconjugated]
664-LI
<P align=left>Recombinant Human LIGHT/TNFSF14 (Catalog # 664-LI) stimulates cell proliferation in HUVEC human umbilical vein endothelial cells. The ED<SUB>50</SUB> is 1-4 ng/mL.</P><p align=


Species Human
Applications BA

21 Publications
Rhodopsin Antibody (4D2)
NBP2-59690
Western Blot: Rhodopsin Antibody (4D2) [NBP2-59690] - Western Blot analysis of Human A549 cells showing detection of ~38.9kDa Rhodopsin protein using Mouse Anti-Rhodopsin Monoclonal Antibody, Clone 4D2 (NBP2-59690). Lane 1: MW ladder. Lane 2: Human A549 Cells 15 ug). Load: 15 ug. Block: 5% Skim Milk Powder in TBST. Primary Antibody: Mouse Anti-Rhodopsin Monoclonal Antibody (NBP2-59690) at 1:1000 for 2.5 hours at RT with shaking . Secondary Antibody: Goat anti-mouse IgG:HRP at 1:1000 for 1 hour at RT with shaking . Color Development: Chemiluminescent for HRP (Moss) for 5 min in RT. Predicted/Observed Size: ~38.9kDa. Other Band(s): Band appears at ~75 kDa indicating detection of the Rhodopsin dimer.Immunohistochemistry: Rhodopsin Antibody (4D2) [NBP2-59690] - Immunohistochemistry analysis using Mouse Anti-Rhodopsin Monoclonal Antibody, Clone 4D2 (NBP2-59690). Tissue: retina. Species: Mouse. Primary Antibody: Mouse Anti-Rhodopsin Monoclonal Antibody (NBP2-59690) at 1:1000. Secondary Antibody: FITC Goat Anti-Mouse (green). Counterstain: DAPI (blue) nuclear stain. Localization: Staining of photoreceptor outer segment (OS). Other layers of the retina: IS inner segment; ONL outer nuclear layer; OPL outer plexiform layer; INL inner nuclear layer; IPL inner plexiform layer; GCL ganglion cell layer..

Mouse Monoclonal
Species Amphibian, Avian, Fish
Applications WB, ELISA, ICC/IF

     1 Review

6 Publications
ERG Antibody - BSA Free
NBP2-60655
Western Blot: ERG Antibody [NBP2-60655] - Total protein from Human THP-1, Jurkat and K562 cells was separated on a 7.5% gel by SDS-PAGE, transferred to PVDF membrane and blocked in 5% non-fat milk in TBST. The membrane was probed with 2.0 ug/ml anti-ERG in blocking buffer and detected with an anti-rabbit HRP secondary antibody using chemiluminescence.Immunocytochemistry/Immunofluorescence: ERG Antibody [NBP2-60655] - HeLa cells were fixed for 10 minutes using 10% formalin and then permeabilized for 5 minutes using 1X TBS + 0.5% Triton-X100. The cells were incubated with anti-ERG at 5 ug/ml overnight at 4C and detected with an anti-rabbit Dylight 488 (Green) at a 1:500 dilution. Alpha tubulin (DM1A) NB100-690 was used as a co-stain at a 1:1000 dilution and detected with an anti-mouse Dylight 550 (Red) at a 1:500 dilution. Nuclei were counterstained with DAPI (Blue). Cells were imaged using a 40X objective.

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

CNGB3 Antibody
NBP2-75087
Immunohistochemistry-Paraffin: CNGB3 Antibody [NBP2-75087] - Negative Control showing staining of paraffin embedded Human Retina, with no primary antibody.Immunohistochemistry-Paraffin: CNGB3 Antibody [NBP2-75087] - (2ug/ml) staining of paraffin embedded Human Retina. Microwaved antigen retrieval with citrate buffer pH 6, HRP-staining.

Goat Polyclonal
Species Human, Monkey
Applications IHC, IHC-Fr, IHC-P

1 Publication
RPE65 Antibody (401.8B11.3D9) - BSA Free
NB100-355
Western Blot: RPE65 Antibody (401.8B11.3D9) - BSA Free [NB100-355] - Subcellular localization of BEST1 and surface Ca2+-dependent Cl- current in patient-derived iPSC-RPEs. Western blots show similar BEST1 expression levels in WT and patient-derived iPSC-RPEs. Each sample was from one cell lysis (BEST1 and beta-actin, RPE65 and CRALBP were on two gels, respectively). Image collected and cropped by CiteAb from the following publication (https://elifesciences.org/articles/29914), licensed under a CC-BY license.Immunocytochemistry/Immunofluorescence: RPE65 Antibody (401.8B11.3D9) - BSA Free [NB100-355] - Expression of eye-specific markers in the induced eye-like structures induced from lignin-added ES cells. (a) Higher-magnification image of the RPE like structure induced from ESCs after 12-day culture. (b) Immunostaining of eye- like structures. Eye- like structures induced from ESCs after 12-day culture were stained with antibodies against RPE65 (red) and nuclei were stained with DAPI solution (blue). Scale bar: a = 50 um, b,d = 200 um, c,e = 100 um. PLoS One. 2013 Jun 21;8(6):e66376. doi: 10.1371/journal.pone.0066376.

Mouse Monoclonal
Species Human, Mouse, Rat
Applications WB, Simple Western, Flow

     7 Reviews

97 Publications
Kv11.1 Antibody - Azide and BSA Free
NBP3-03109
Western Blot: Kv11.1 Antibody [NBP3-03109] - Analysis of extracts of various cell lines, using Kv11.1 antibody at 1:500 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 EnhanImmunohistochemistry-Paraffin: Kv11.1 Antibody [NBP3-03109] - Human lung cancer using KCNH2 antibody at dilution of 1:100 (40x lens).Perform microwave antigen retrieval with 10 mM PBS buffer pH 7.2 before commencing with IHC staining protocol.

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

MID1 Antibody - BSA Free
NBP3-05061
Western Blot: MID1 Antibody [NBP3-05061] - analysis of extracts of HeLa cells, using MID1 Rabbit pAb 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: 60s.Immunocytochemistry/Immunofluorescence: MID1 Antibody [NBP3-05061] - Analysis of MCF-7 cells using MID1 antibody . Blue: DAPI for nuclear staining.

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

CNGA3 Antibody - BSA Free
NBP2-92423
Western Blot: CNGA3 Antibody [NBP2-92423] - Analysis of extracts of various cell lines, using CNGA3 .Exposure time: 30s.

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB

GUCY2D Antibody
NBP3-12211
Western Blot: GUCY2D Antibody [NBP3-12211] - 1:500 antibody dilution in Diluobuffer. Immunohistochemistry-Paraffin: GUCY2D Antibody [NBP3-12211] - 1:1000 dilution in IHC blocking buffer. DAB (brown) staining and Hematoxylin QS (blue) counterstain. 40X magnification on leica DM4000. FFPE section.

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

PDE6C Antibody
NBP3-12245
Immunohistochemistry-Paraffin: PDE6C Antibody [NBP3-12245] - IHC of NBP3-12245 with lung. Immunostraining is seen in cytoplasm.

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

GNAT2 Antibody
NBP3-13378
Western Blot: GNAT2 Antibody [NBP3-13378] - Mouse tissue extract (50 ug) was separated by 10% SDS-PAGE, and the membranes were blotted with GNAT2 antibody (NBP3-13378) diluted at 1:1000 and competitor's antibody diluted at 1:1000. The HRP-conjugated anti-rabbit IgG antibody (NBP2-19301) was used to detect the primary antibody.Immunocytochemistry/Immunofluorescence: GNAT2 Antibody [NBP3-13378] - GNAT2 antibody detects GNAT2 protein by immunofluorescent analysis. Sample: DIV9 rat E18 primary cortical neuron cells were fixed in 4% paraformaldehyde at RT for 15 min. Green: GNAT2 stained by GNAT2 antibody (NBP3-13378) diluted at 1:500. Red: Tau, stained by Tau antibody [287] diluted at 1:500. Blue: Fluoroshield with DAPI.

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


Related Genes

Achromatopsia has been researched against:

Related Pathways

Achromatopsia has been linked to:

Related Diseases

Achromatopsia has been studied in relation to diseases such as:

Related PTMs

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

Alternate Names

Achromatopsia is also known as achromatopsia, achromatopsia (disorder), total color blindness, rod monochromatism, rod monochromacy, achromatopsia 1, monochromatism, achm.