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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 PHGDH, PGD, CFTR, SNCA, INS.

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 1924 products for the study of Single Gene Defect that can be applied to Western Blot, Flow Cytometry, Immunohistochemistry, Chromatin Immunoprecipitation (ChIP), Immunocytochemistry/Immunofluorescence from our catalog of antibodies and ELISA kits.

NBP1-87311
Western Blot: PHGDH Antibody [NBP1-87311] - Analysis: NBP1-87311 (A) shows similar pattern to independent antibody NBP1-87310 (B)Immunocytochemistry/Immunofluorescence: PHGDH Antibody [NBP1-87311] - Staining of human cell line U-2 OS shows localization to plasma membrane & cytosol. Antibody staining is shown in green.

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

7 Publications
NBP2-45880
Western Blot: PGD Antibody (OTI2A5) [NBP2-45880] - Analysis of HEK293T cells were transfected with the pCMV6-ENTRY control (Left lane) or pCMV6-ENTRY PGD.Immunohistochemistry-Paraffin: PGD Antibody (OTI2A5) [NBP2-45880] - Human thyroid tissue using anti-PGD mouse monoclonal antibody. (Heat-induced epitope retrieval by 10mM citric buffer, pH6.0, 100 degrees C for 10min.

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

MAB25031
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=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=

Mouse Monoclonal
Species Human
Applications WB, IHC, IP

     11 Reviews

40 Publications
NBP2-15365
Western Blot: alpha-Synuclein Antibody [NBP2-15365] - Various tissue extracts (50 ug) were separated by 15% SDS-PAGE, and the membranes were blotted with alpha Synuclein antibody diluted at 1:2000 and competitor's antibody  diluted at 1:2000. The HRP-conjugated anti-rabbit IgG antibody was used to detect the primary antibody.Immunocytochemistry/Immunofluorescence: alpha-Synuclein Antibody [NBP2-15365] -  DIV14 rat E18 primary cortical neurons were fixed in 4% paraformaldehyde at RT for 15 min. Green: alpha Synuclein protein stained by alpha Synuclein antibody diluted at 1:500. Red: beta Tubulin 3/ Tuj1, stained by beta Tubulin 3/ Tuj1 antibody [1338] diluted at 1:500. Blue: Fluoroshield with DAPI.

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

     1 Review

3 Publications
NBP2-34260
Immunohistochemistry-Paraffin: Insulin Antibody (E2-E3 (same as INS04)) [NBP2-34260] - Insulin E2E3, human pancreas (FFPE), HIER pH 9 antigen retrieval. Image from verified customer review.Immunohistochemistry-Paraffin: Insulin Antibody (E2-E3 (same as INS04)) [NBP2-34260] - Formalin-fixed, paraffin-embedded human pancreas stained with insulin Monoclonal Antibody (E2-E3)

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

     5 Reviews

1 Publication
MOB00
 Leptin/OB [HRP] Leptin/OB [HRP]


Species Mouse, Rat

     4 Reviews

120 Publications
NB100-1533
Western Blot: POMC Antibody [NB100-1533] - Staining of NIH3T3 cell lysate with antibody at 0.3 ug/mL (A) and Rat Brain cell lysate with antibody at 2 ug/mL (B). 35 ug protein in RIPA buffer. Detected by chemiluminescence.Immunohistochemistry-Paraffin: POMC Antibody [NB100-1533] - Staining of paraffin embedded Human Pituitary Gland. Antibody at 2 ug/mL. Steamed antigen retrieval with Tris/EDTA buffer pH 9, HRP-staining.

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

10 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

     1 Review

1 Publication
NBP1-89679
Western Blot: HNF-4 alpha/NR2A1 Antibody [NBP1-89679] - Analysis in human cell lines Caco-2 and PC-3 using anti-HNF4A antibody. Corresponding HNF4A RNA-seq data are presented for the same cell lines. Loading control: anti-GAPDH.Immunocytochemistry/Immunofluorescence: HNF-4 alpha/NR2A1 Antibody [NBP1-89679] - Staining of human cell line CACO-2 shows localization to nucleoplasm. Antibody staining is shown in green.

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

     1 Review

4 Publications
H00005555-P01
SDS-Page: Recombinant Human PRH2 Protein [H00005555-P01] - 12.5% SDS-PAGE Stained with Coomassie Blue.


Species Human

NB300-996
Immunocytochemistry/Immunofluorescence: WASP Antibody [NB300-996] - Immunofluorescence analysis of paraformaldehyde fixed U2OS cells, permeabilized with 0.15% Triton. Primary incubation 1hr (10 ug/mL) followed by Alexa Fluor 488 secondary antibody (2 ug/mL), showing nuclear and cytoplasmic staining. The nuclear stain is DAPI (blue). Negative control: Unimmunized goat IgG (10 ug/mL) followed by Alexa Fluor 488 secondary antibody (2 ug/mL).Immunohistochemistry-Paraffin: WASP Antibody [NB300-996] - Staining of paraffin embedded Human Spleen. Antibody at 5 ug/mL. Steamed antigen retrieval with citrate buffer pH 6, AP-staining.

Goat Polyclonal
Species Human
Applications WB, Flow, ICC/IF

1 Publication
NBP1-41012
Flow Cytometry: CYBB/NOX2 Antibody (NL7) [NBP1-41012] - Using the Alexa Fluor 647 direct conjugate An intracellular stain was performed on Daudi cells with CYBB/NOX2 (NL7) antibody NBP1-41012AF647 (blue) and a matched isotype control NBP1-97005AF647 (orange). Cells were fixed with 4% PFA and then permeablized with 0.1% saponin. Cells were incubated in an antibody dilution of 2 ug/mL for 30 minutes at room temperature. Both antibodies were conjugated to Alexa Fluor 647.Flow Cytometry: CYBB/NOX2 Antibody (NL7) [NBP1-41012] - Staining of human peripheral blood granulocytes with Mouse anti Human Cytochrome b-245 Heavy Chain. Permeabilised with Leucoperm

Mouse Monoclonal
Species Human
Applications WB, ELISA, Flow

     2 Reviews

2 Publications
NBP2-14081
Immunocytochemistry/Immunofluorescence: Hemoglobin beta Antibody [NBP2-14081] - Staining of human cell line Hep G2 shows localization to vesicles. Antibody staining is shown in green.Immunohistochemistry-Paraffin: Hemoglobin beta Antibody [NBP2-14081] - Staining of human placenta shows erythrocyte positivity in vessels.

Rabbit Polyclonal
Species Human
Applications ICC/IF, 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] - 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 488 (R) 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, IHC

     1 Review

5 Publications
423-F8
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) 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

     3 Reviews

43 Publications
291-G1
1 μg/lane of Recombinant Human IGF-I/IGF-1 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/IGF-1 (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

     5 Reviews

136 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.Immunohistochemistry-Paraffin: Melanocortin-4 R Antibody [NBP2-41103] - human brain tissue with MC4R antibody at 2.5 ug/mL.

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, ELISA, IHC

NBP1-88530
Immunohistochemistry-Paraffin: ADO Antibody [NBP1-88530] - Staining of human liver shows low positivity in hepatocytes as expected.Immunohistochemistry-Paraffin: ADO Antibody [NBP1-88530] - Staining of human testis shows cytoplasmic positivity in Leydig cells.

Rabbit Polyclonal
Species Human
Applications 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.