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Genetic Diseases, Inborn: Disease Bioinformatics

Research of Genetic Diseases, Inborn has been linked to Hereditary Diseases, Cytogenetic Abnormality, Congenital Abnormality, Neoplasms, Malignant Neoplasms. The study of Genetic Diseases, Inborn has been mentioned in research publications which can be found using our bioinformatics tool below. Researched pathways related to Genetic Diseases, Inborn include Pathogenesis, Fertilization, Localization, Transport, Translation. These pathways complement our catalog of research reagents for the study of Genetic Diseases, Inborn including antibodies and ELISA kits against OSTEOPETROSIS, ADA, AFP, AKR1B1, AR.

Top Research Reagents

We have 4882 products for the study of Genetic Diseases, Inborn 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
HFE Antibody (1G12)
H00003077-M01
Western Blot: HFE Antibody (1G12) [H00003077-M01] - Analysis of HFE expression in transfected 293T cell line by HFE monoclonal antibody (M01), clone 1G12.Lane 1: HFE transfected lysate(40.1 KDa).Lane 2: Non-transfected lysate.Immunocytochemistry/Immunofluorescence: HFE Antibody (1G12) [H00003077-M01] - Analysis of monoclonal antibody to HFE on HeLa cell. Antibody concentration 10 ug/ml.

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

     2 Reviews

1 Publication
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
Adenosine Deaminase/ADA Antibody
NBP1-87404
Immunohistochemistry-Paraffin: Adenosine Deaminase/ADA Antibody [NBP1-87404] - Analysis in human duodenum and testis tissues using NBP1-87404 antibody. Corresponding Adenosine Deaminase/ADA RNA-seq data are presented for the same tissues.Immunohistochemistry-Paraffin: Adenosine Deaminase/ADA Antibody [NBP1-87404] - Staining of human duodenum, small intestine, stomach and testis using Anti-Adenosine Deaminase/ADA antibody NBP1-87404 (A) shows similar protein distribution across tissues to independent antibody NBP1-90361 (B).

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

4 Publications
AKR1B1 Antibody
NBP1-89146
Immunocytochemistry/Immunofluorescence: AKR1B1 Antibody [NBP1-89146] - Staining of human cell line A-431 shows localization to nucleoplasm & cytosol. Antibody staining is shown in green.Immunohistochemistry-Paraffin: AKR1B1 Antibody [NBP1-89146] - Staining of human liver shows no positivity in hepatocytes as expected.

Rabbit Polyclonal
Species Human
Applications ICC/IF, IHC, IHC-P

Dystrophin Antibody
NBP1-89953
Immunohistochemistry-Paraffin: Dystrophin Antibody [NBP1-89953] - Staining in human skeletal muscle and tonsil tissues . Corresponding DMD RNA-seq data are presented for the same tissues.Immunohistochemistry-Paraffin: Dystrophin Antibody [NBP1-89953] - Staining of human heart muscle shows strong membranous positivity in myocytes.

Rabbit Polyclonal
Species Human, Mouse
Applications ICC/IF, IHC, IHC-P

4 Publications
ABCB6 Antibody
NBP1-91642
Immunocytochemistry/Immunofluorescence: ABCB6 Antibody [NBP1-91642] - Staining of human cell line U-251 MG shows localization to the Golgi apparatus.Immunohistochemistry-Paraffin: ABCB6 Antibody [NBP1-91642] - Staining of human testis shows cytoplasmic positivity.

Rabbit Polyclonal
Species Human
Applications ICC/IF, IHC, IHC-P

1 Publication
BRCA1 Antibody (RAY) - BSA Free
NB100-598
Western Blot: BRCA1 Antibody (RAY) [NB100-598] - Analysis of BRCA1 on MCF7 lysate.Immunocytochemistry/Immunofluorescence: BRCA1 Antibody (RAY) [NB100-598] - BRCA (RAY) antibody was tested in MCF-7 cells with FITC (green). Nuclei and alpha-tubulin were counterstained with DAPI (blue) and DyLight 550 (red).

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

6 Publications
Androgen R/NR3C4 [p Ser213, p Ser210] Antibody (156C135.2) - BSA Free
NB100-56603
Western Blot: Androgen R/NR3C4 [p Ser213, p Ser210] Antibody (156C135.2) [NB100-56603] - Analysis using Azide Free version of NB100-56603. LNCaP cells (passage number 38) were serum-starved for 2 days. After serum starvation, cells were (A) left untreated, (B) treated with 100 ng/ml IGF-1 for 4h, or (C) incubated with 20 um LY294002 for 30 mi

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

14 Publications
Lamin A + C Antibody (4C4)
NBP2-25151
Western Blot: Lamin A + C Antibody (4C4) [NBP2-25151] - Analysis of different cell lysates using mouse mAb to lamin A/C, NBP2-25151, dilution 1:1,000 in green: [1] protein standard (red), [2] HeLa, [3] HEK293 [4] C6, and [5] NIH-3T3 cell lysates. Two strong bands at 74 and 65kDa correspond to the lamin A and lamin C proteins respectively, detected only in the cells of human origin. NBP2-25151 antibody failed to recognize rat or mouse proteins.Immunocytochemistry/Immunofluorescence: Lamin A + C Antibody (4C4) [NBP2-25151] - Analysis of HeLa cells stained with mouse mAb to lamin A/C, NBP2-25151, dilution 1:2,000 in red, and costained with rabbit pAb to HSP60, dilution 1:5,000, in green. The blue is Hoechst staining of nuclear DNA. NBP2-25151 antibody specifically labels the nuclear lamina, while the HSP60 antibody reveals protein expressed in mitochondria.

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

2 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
BRCA2 Antibody (234403) [Unconjugated]
MAB2476
Western blot shows lysates of Capan-1 human pancreatic adenocarcinoma cell line, HeLa human cervical epithelial carcinoma cell line, and U2OS human osteosarcoma cell line. PVDF membrane was probed with 0.2 µg/mL of Human BRCA2 Monoclonal Antibody (Catalog # MAB2476) followed by HRP-conjugated Anti-Mouse IgG Secondary Antibody (Catalog # <a class=BRCA2 was detected in immersion fixed paraffin-embedded sections of human breast cancer tissue using Mouse Anti-Human BRCA2 Monoclonal Antibody (Catalog # MAB2476) at 5 µg/mL for 1 hour at room temperature followed by incubation with the Anti-Mouse IgG VisUCyte™ HRP Polymer Antibody (<a class=

Mouse Monoclonal
Species Human
Applications WB, IHC

13 Publications
Complement Component C3d Antibody [Unconjugated]
AF2655
Complement Component C3d was detected in perfusion fixed frozen sections of mouse kidney using Goat Anti-Mouse Complement Component C3d Antigen Affinity-purified Polyclonal Antibody (Catalog # AF2655) overnight at 4 °C. Tissue was stained using the NorthernLights™ 557-conjugated Anti-Goat IgG Secondary Antibody (red; Catalog # <A class=NoLineLink href= Complement Component C3d was detected in perfusion fixed paraffin-embedded sections of rat kidney using Goat Anti-Mouse Complement Component C3d Antigen Affinity-purified Polyclonal Antibody (Catalog # AF2655) 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, Rat
Applications WB, IHC

58 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

76 Publications
alpha-Fetoprotein/AFP Antibody (189502) [Unconjugated]
MAB1368
Western blot shows lysates of HepG2 human hepatocellular carcinoma cell line. PVDF membrane was probed with 0.5 µg/mL of Mouse Anti-Human/Mouse a-Fetoprotein/AFP Monoclonal Antibody (Catalog # MAB1368) followed by HRP-conjugated Anti-Mouse IgG Secondary Antibody (Catalog # <a class=a-Fetoprotein/AFP was detected in immersion fixed HepG2 human hepatocellular carcinoma cell line using Mouse Anti-Human/Mouse a-Fetoprotein/AFP Monoclonal Antibody (Catalog # MAB1368) at 25 µg/mL for 3 hours at room temperature. Cells were stained using the NorthernLights™ 557-conjugated Anti-Mouse IgG Secondary Antibody (red; Catalog # <a class=

Mouse Monoclonal
Species Human, Mouse
Applications WB, Simple Western, CyTOF-ready

     3 Reviews

90 Publications
Connexin 26/GJB2 Antibody - BSA Free
NBP2-41304
Western Blot: Connexin 26/GJB2 Antibody [NBP2-41304] - Western blotting analysis detects Cx26 using R(alpha)Cx26-Ct or R(alpha)Cx26-cl antibodies. (a) R(alpha)Cx26-Ct (A) and R(alpha)Cx26-cl (B) antibodies detected a specific 26kDa band on pig heart tissue lysates (lanes A and B are cropped blots obtained from the same gel). R(alpha)Cx26-cl recognized the 26kDa band on human and rat heart (H) lysates and on rat liver (L) sample (positive control) although two unspecific bands at molecular weights lower than 26kDa were detected. No bands were detected on smooth muscle (SM) tissue lysates (negative control) by R(alpha)Cx26-cl. R(alpha)GAPDH was used as protein loading control for rat tissue samples run on the same gel. Image collected and cropped by CiteAb from the following publication (nature.com/articles/s41598-018-32405-2), licensed under a CC-BY license.Immunocytochemistry/Immunofluorescence: Connexin 26/GJB2 Antibody [NBP2-41304] - Cx26 distribution at level of the cardiomyocyte cytoplasm. Confocal laser scanning microscopy: representative images of rat and pig heart sections. Double immunofluorescence analysis for Cx26 (red) and Cx43 (green) show a distinct cell localization of the two Cxs. (a) Three dimensional picture of the maximum intensity projection of the raw images of longitudinal rat heart section treated with R(alpha)Cx26-cl and M(alpha)Cx43. Scale bar: 20um. Image collected and cropped by CiteAb from the following publication (nature.com/articles/s41598-018-32405-2), licensed under a CC-BY license.

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

5 Publications
TNF-alpha [Unconjugated]
210-TA
Recombinant Human TNF-alpha (Catalog # 210-TA) has a molecular weight (MW) of 53.1 kDa as analyzed by SEC-MALS, suggesting that this protein is a homotrimer.  MW may differ from predicted MW due to post-translational modifications (PTMs) present (i.e. Glycosylation).Recombinant Human TNF-alpha (Catalog # 210‑TA) induces cytotoxicity in the L-929 mouse fibroblast cell line in the presence of the metabolic inhibitor actinomycin D. The ED<sub>50</sub> for this effect is 25‑100 pg/mL.


Species Human
Applications BA

     3 Reviews

811 Publications
Phenylalanine Hydroxylase Antibody
NBP2-48615
Immunohistochemistry-Paraffin: Phenylalanine Hydroxylase Antibody [NBP2-48615] - Analysis in human liver and pancreas tissues. Corresponding Phenylalanine Hydroxylase RNA-seq data are presented for the same tissues.Immunohistochemistry-Paraffin: Phenylalanine Hydroxylase Antibody [NBP2-48615] - Staining of human cerebral cortex, kidney, liver and pancreas using Anti-Phenylalanine Hydroxylase antibody NBP2-48615 (A) shows similar protein distribution across tissues to independent antibody NBP1-80917 (B).

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

1 Publication
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