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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.

Top Research Reagents

We have 2618 products for the study of Single Gene Defect that can be applied to Chromatin Immunoprecipitation (ChIP), Flow Cytometry, Immunocytochemistry/ Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.

PGD Antibody
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

4 Publications
PHGDH Antibody
NBP1-87311
Western Blot: PHGDH Antibody [NBP1-87311] - Analysis in human cell lines SK-MEL-30 and A-549. Corresponding RNA-seq data are presented for the same cell lines. Loading control: Anti-COX4I1.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
ADO Antibody
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

HNF-4 alpha/NR2A1 Antibody
NBP1-89679
Immunohistochemistry-Paraffin: HNF-4 alpha/NR2A1 Antibody [NBP1-89679] - Staining in human duodenum and tonsil tissues using anti-HNF4A antibody. Corresponding HNF4A RNA-seq data are presented for the same tissues.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.

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

     1 Review

4 Publications
WASP Antibody
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
FMRP Antibody (OTI1C6)
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

2 Publications
Hemoglobin beta Antibody
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

alpha-Synuclein Antibody
NBP2-15365
Immunohistochemistry-Frozen: alpha-Synuclein Antibody [NBP2-15365] - Frozen-sectioned adult mouse hippocampus. Green: alpha Synuclein protein stained by alpha Synuclein antibody diluted at 1:250. Red: NeuN, stained by NeuN antibody [2Q158] diluted at 1:500.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.

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

     1 Review

12 Publications
POMC Antibody
NB100-1533
Immunohistochemistry: POMC Antibody [NB100-1533] - Representative confocal images of POMC in POMC-transfected WT and Sel1L-/- N2a cells. White arrows point to POMC-containing secretory granules, while yellow arrows point to perinuclear POMC. KDEL marks the ER. Representative data from at least 2 independent experiments are shown. Image collected and cropped by CiteAb from the following publication (jci.org/articles/view/96420), licensed under a CC-BY license.Flow Cytometry: POMC Antibody [NB100-1533] - Flow cytometric analysis of paraformaldehyde fixed A431 cells (blue line), permeabilized with 0.5% Triton. Primary incubation 1hr (10 ug/mL) followed by Alexa Fluor 488 secondary antibody (1 ug/mL). IgG control: Unimmunized goat IgG (black line) followed by Alexa Fluor 488 secondary antibody.

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

10 Publications
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
CFTR Antibody (24-1) [Unconjugated] - C-terminus
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=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=

Mouse Monoclonal
Species Human
Applications WB, IHC, IP

     10 Reviews

75 Publications
Melanocortin-4 R Antibody - BSA Free
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, ICC/IF

CYBB/NOX2 Antibody - BSA Free
NBP2-41291
Western Blot: CYBB/NOX2 Antibody [NBP2-41291] - 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

7 Publications
IGF-I/IGF-1 [Unconjugated]
291-G1
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.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.


Species Human
Applications BA

217 Publications
FGF-8 [Unconjugated]
423-F8
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.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.


Species Human, Mouse
Applications BA

     1 Review

60 Publications
NRAMP1/SLC11A1 Antibody (910825)
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=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

Leptin/OB [HRP]
MOB00B
N/A Leptin/OB [HRP]N/A Leptin/OB [HRP]


Species Mouse, Rat
Applications ELISA

184 Publications
FGFR1 Antibody (M19B2) - BSA Free
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, ICC/IF

     1 Review

7 Publications
Recombinant Human PRH2 GST (N-Term) Protein
H00005555-P01
SDS-Page: Recombinant Human PRH2 Protein [H00005555-P01] - 12.5% SDS-PAGE Stained with Coomassie Blue.


Species Human
Applications WB, ELISA, PA


Related Genes

Single Gene Defect has been researched against:

Related Pathways

Single Gene Defect has been linked to:

Related Diseases

Single Gene Defect has been studied in relation to diseases such as:

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.