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Single Gene Defect: Disease Bioinformatics

Research of Single Gene Defect has been linked to Malignant Neoplasms, Cytogenetic Abnormality, Genetic Diseases, Inborn, Cystic Fibrosis, Diabetes Mellitus. The study of Single Gene Defect has been mentioned in research publications which can be found using our bioinformatics tool below. Researched pathways related to Single Gene Defect include Pathogenesis, Transport, Localization, Secretion, Fertilization. These pathways complement our catalog of research reagents for the study of Single Gene Defect including antibodies and ELISA kits against PARKIN PROTEIN, CFTR, CYBB, FGF8, FGFR1.

Single Gene Defect 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 Single Gene Defect 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 1527 products for the study of Single Gene Defect that can be applied to Western Blot, Flow Cytometry, Immunocytochemistry/Immunofluorescence, Immunohistochemistry, Chromatin Immunoprecipitation (ChIP) from our catalog of antibodies and ELISA kits.

NBP1-87311
Western Blot: PHGDH Antibody [NBP1-87311] - Analysis in mouse cell line NIH-3T3 and rat cell line NBT-II.Immunocytochemistry/Immunofluorescence: PHGDH Antibody [NBP1-87311] - Immunofluorescent staining of human cell line U-2 OS shows localization to plasma membrane & cytosol.

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

6 Publications
NBP1-31589
Western Blot: PGD Antibody [NBP1-31589] - Mouse tissue extracts (50 ug) was separated by 10% SDS-PAGE, and the membrane was blotted with PGD antibody [N1N3] diluted at 1:1000.Immunocytochemistry/Immunofluorescence: PGD Antibody [NBP1-31589] - HeLa cells were fixed in ice-cold MeOH for 5 min. Green: PGD protein stained by PGD antibody [N1N3]  diluted at 1:500. Blue: Hoechst 33342 staining.

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

2 Publications
MAB25031
CFTR was detected in immersion fixed paraffin-embedded sections of human placenta using Mouse Anti-Human CFTR C-Terminus Monoclonal Antibody (Catalog # MAB25031) at 25 µg/mL overnight at 4 °C. Tissue was stained using the Anti-Mouse HRP-DAB Cell & Tissue Staining Kit (brown; Catalog # <A class=NoLineLink href=CFTR was detected in immersion fixed paraffin-embedded sections of human placenta using 8 µg/mL Mouse Anti-Human CFTR C‑Terminus Monoclonal Antibody (Catalog # MAB25031) overnight at 4 °C. Tissue was stained with the Anti-Mouse HRP-AEC Cell & Tissue Staining Kit (red; Catalog # <A class=NoLineLink href=

Mouse Monoclonal
Species Human
Applications WB, IHC, IP

     11 Reviews

33 Publications
NBP1-26380
Western Blot: Synuclein-alpha [Nitrate Tyr125, Nitrate Tyr133] Antibody (24.8) [NBP1-26380] - Western blot of (A) Nitrated Synuclein-alpha protein and (B) non-nitrated Synuclein-alpha protein.Immunohistochemistry-Paraffin: alpha-Synuclein [Nitrate Tyr125, Nitrate Tyr133] Antibody (24.8) [NBP1-26380] - IHC analysis of formalin fixed paraffin-embedded (FFPE) human brain using alpha-Synuclein antibody (clone 24.8) at 1:200 on a Bond Rx autostainer (Leica Biosystems). The assay involved 20 minutes of heat induced antigen retrieval (HIER) using 10mM sodium citrate buffer (pH 6.0) and endogenous peroxidase quenching with peroxide block. The sections were incubated with primary antibody for 30 minutes and Bond Polymer Refine Detection (Leica Biosystems) with DAB was used for signal development followed by counterstaining with hematoxylin. Whole slide scanning and capturing of representative images was performed using Aperio AT2 (Leica Biosystems). Cytoplasmic puncta and varicosities staining was observed. Staining was performed by Histowiz.

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

2 Publications
NBP2-34260
Immunohistochemistry-Paraffin: Insulin Antibody (E2-E3 (same as INS04)) [NBP2-34260] - Formalin-fixed, paraffin-embedded human pancreas stained with insulin Monoclonal Antibody (E2-E3)SDS-Page: Insulin Antibody (E2-E3 (same as INS04)) [NBP2-34260]

Mouse Monoclonal
Species Human, Mouse, Porcine
Applications WB, Flow, ICC/IF

     4 Reviews

NB100-1533
Western Blot: POMC Antibody [NB100-1533] - Western blot analysis of POMC using NB100-1533 at 0.01ug/ml in NIH 3T3 lysate (35ug protein in RIPA buffer). Primary incubation was 1 hour. Detected by chemiluminescence.Immunohistochemistry-Paraffin: POMC Antibody [NB100-1533] - Analysis in human Anterior Pituitary Gland shows vesilulate staining in glandular cells.

Goat Polyclonal
Species Human, Mouse, Porcine
Applications WB, ICC/IF, IHC

6 Publications
NBP2-01770
Western Blot: FMRP Antibody (1C6) [NBP2-01770] Analysis of extracts (35ug) from 9 different cell lines by using anti-FMRP monoclonal antibody (HepG2: human; HeLa: human; SVT2: mouse; A549: human; COS7: monkey; Jurkat: human; MDCK: canine; PC12: rat; MCF7: human).Immunocytochemistry/Immunofluorescence: FMRP Antibody (1C6) [NBP2-01770] - Staining of COS7 cells transiently transfected by pCMV6-ENTRY FMRP.

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

MAB4605
Western blot shows lysates of HepG2 human hepatocellular carcinoma cell line. Gels were loaded with 10 µg of cytoplasmic (Cyto) and 5 µg of nuclear (Nuc) extracts. PVDF membrane was probed with 1 µg/mL of Mouse Anti-Human HNF‑4 alpha /<BR>NR2A1 Monoclonal Antibody (Catalog # MAB4605) followed by HRP-conjugated Anti-Mouse IgG Secondary Antibody (Catalog # <A class=NoLineLink href=HNF‑4 alpha /NR2A1 was detected in immersion fixed HepG2 human hepatocellular carcinoma cell line using Mouse Anti-Human HNF‑4 alpha /NR2A1 Monoclonal Antibody (Catalog # MAB4605) at 10 µg/mL for 3 hours at room temperature. Cells were stained using the NorthernLights™ 557-conjugated Anti-Mouse IgG Secondary Antibody (red, upper panel; Catalog # <a class=

Mouse Monoclonal
Species Human
Applications WB, Simple Western, ICC

     1 Review

H00005555-P01
Other Recombinant Human PRH2 Protein


Species Human

NB100-2307
Western Blot: WASP [p Ser483, p Ser484] Antibody [NB100-2307] - Detection of Human Phospho WASP (S483/S484) by Western Blot. Samples: Whole cell lysate (50 ug) from Jurkat and 293T cells prepared using NETN lysis buffer. Antibody: Affinity purified rabbit anti-Phospho WASP (S483/S484) antibody NB100-2307 used for WB at 0.1 ug/ml. Detection: Chemiluminescence with an exposure time of 3 minutes.Western Blot: WASP [p Ser483, p Ser484] Antibody [NB100-2307] - Whole cell  lysate (50 ug/lane) from U937 and Jurkat cells. Lysates were either untreated, mock treated with phosphatase or treated with phosphatase.  Antibody used at 1 ug/ml.

Rabbit Polyclonal
Species Human
Applications WB

6 Publications
NBP2-41291
Western Blot: CYBB/NOX2 Antibody [NBP2-41291] - Western blot analysis of NOX2 in rat brain tissue lysate with NOX2 antibody at 1 ug/ml.Immunocytochemistry/Immunofluorescence: CYBB/NOX2 Antibody [NBP2-41291] - Staining of NOX2 in rat brain tissue with NOX2 antibody at 20 ug/ml.

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

     1 Review

NBP2-14081
Immunohistochemistry-Paraffin: Hemoglobin beta Antibody [NBP2-14081] - Staining of human placenta shows erythrocyte positivity in vessels.

Rabbit Polyclonal
Species Human
Applications IHC, IHC-P

     1 Review

MAB8400
Western blot shows lysates of HEK293 human embryonic kidney cell line either mock transfected or transfected with human NRAMP1/SLC11A1. PVDF membrane was probed with 1 µg/mL of Mouse Anti-Human NRAMP1/SLC11A1 Monoclonal Antibody (Catalog # MAB8400) followed by HRP-conjugated Anti-Mouse IgG Secondary Antibody (Catalog # <A class=NoLineLink href=HEK293 human embryonic kidney cell line transfected with either (A) human NRAMP1/SLC11A1 or (B) irrelevant transfectants and eGFP was stained with Mouse Anti-Human NRAMP1/SLC11A1 Monoclonal Antibody (Catalog # MAB8400) followed by Allophycocyanin-conjugated Anti-Mouse IgG Secondary Antibody (Catalog # <A class=NoLineLink href=

Mouse Monoclonal
Species Human
Applications WB, Flow, CyTOF-ready

NB600-1287
Western Blot: FGF R1 Antibody (M19B2) [NB600-1287] - Western blot analysis of MCF7 (A), HepG2 (B), NIH3T3 (C), and PC-12 (D) cell lysate using FGF R1 antibody at 2 ug/ml.Flow Cytometry: FGF R1 Antibody (M19B2) [NB600-1287] - Analysis using the Alexa Fluor (R) 488 conjugate of NB600-1287. Staining of FGF R1 in HEK293 and HEK293 FGFR transfected cells using anti-FGF R1 antibody. Red - positive cells, Green - negative cells, Blue - negative cells + antibody, Pink - positive cells + antibody. Image from verified customer review.

Mouse Monoclonal
Species Human, Mouse, Rat
Applications WB, Flow, IP

     1 Review

3 Publications
423-F8/CF
1 μg/lane of Recombinant Human/Mouse FGF-8b was resolved with SDS-PAGE under reducing (R) conditions and visualized by silver staining, showing a single band at 23 kDa.Recombinant Human/Mouse FGF-8b (Catalog # 423-F8/CF) stimulates cell proliferation in the NR6R‑3T3 mouse fibroblast cell line. The ED<sub>50</sub> for this effect is 6.5-40 ng/mL in the presence of 1 μg/mL heparin.


Species Human, Mouse

33 Publications
291-G1
1 μg/lane of Recombinant Human IGF-I was resolved with SDS-PAGE under reducing (R) conditions and visualized by silver staining, showing a single band at 7 kDa.Recombinant Human IGF-I (Catalog # 291-G1) stimulates proliferation in the MCF-7 human breast cancer cell line. The ED<SUB>50</SUB> for this effect is 0.3‑1.5 ng/mL.


Species Human

     1 Review

86 Publications
NBP2-41103
Western Blot: Melanocortin-4 R Antibody [NBP2-41103] - Western blot analysis of MC4R in rat brain tissue lysate with MC4R antibody at 1 ug/mL in (A) the absence and (B) the presence of blocking peptide.Immunocytochemistry/Immunofluorescence: Melanocortin-4 R Antibody [NBP2-41103] - Immunofluorescence of MC4R in Human Brain cells with MC4R antibody at 20 ug/mL.

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

NBP1-88529
Western Blot: ADO Antibody [NBP1-88529] - Lane 1: Marker [kDa] 250, 130, 95, 72, 55, 36, 28, 17, 10. Lane 2: Negative control (vector only transfected HEK293T lysate). Lane 3: Over-expression lysate (Co-expressed with a C-terminal myc-DDK tag (3.1 kDa) in mammalian HEK293T cells).Immunohistochemistry-Paraffin: ADO Antibody [NBP1-88529] - Staining of human testis shows cytoplasmic positivity in leydig cells.

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


Related Genes

Single Gene Defect has been researched against:

Related PTMs

Single Gene Defect has been studied in relation to posttranslational modifications (PTMs) including:

Alternate Names

Single Gene Defect is also known as Single Gene Defects, Single-gene Defect, Single-gene Defects.