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Inborn Errors Of Metabolism: Disease Bioinformatics

Research of Inborn Errors Of Metabolism has been linked to Metabolic Diseases, Phenylketonurias, Cytogenetic Abnormality, Acidemia, Liver Diseases. The study of Inborn Errors Of Metabolism has been mentioned in research publications which can be found using our bioinformatics tool below. Researched pathways related to Inborn Errors Of Metabolism include Excretion, Pathogenesis, Transport, Urea Cycle, Fatty Acid Oxidation. These pathways complement our catalog of research reagents for the study of Inborn Errors Of Metabolism including antibodies and ELISA kits against GROWTH HORMONE, MEDIUM-CHAIN ACYL-COA DEHYDROGENASE, ADA, BCHE, BTD.

Top Research Reagents

We have 2943 products for the study of Inborn Errors Of Metabolism that can be applied to Flow Cytometry, Immunocytochemistry/ Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.

Glucose 6 Phosphate Dehydrogenase Antibody
NB100-236
Western Blot: Glucose 6 Phosphate Dehydrogenase Antibody [NB100-236] - Immunoblot analyses of protein expression for Nrf2 and antioxidant enzymes. Representative immunoblots of cytosolic extracts from the hearts of young and old mice under basal conditions and following EES. Protein blots were probed with anti-HO1, NQO1, GCLM, GCLC, Catalase, SOD1, SOD2, GSR, G6PD, GPX1 and GAPDH. Individual lanes indicate a single animal. Densitometry analysis of respective protein signals was performed using Image-J and expressed as relative intensity units calculated as mean values of young and old, *p<0.05. Individual lanes indicate each animal (n?=?6). #p<0.05-between basal and EES. Image collected and cropped by CiteAb from the following publication (https://dx.plos.org/10.1371/journal.pone.0045697), licensed under a CC-BY license.Western Blot: Glucose 6 Phosphate Dehydrogenase Antibody [NB100-236] - Detection of Human and Mouse G6PD by Western Blot. Samples: Whole cell lysate (50 ug) from HeLa, 293T, and mouse NIH3T3 cells prepared using NETN lysis buffer. Antibody: Affinity purified rabbit anti-G6PD antibody NB100-236 used for WB at 1 ug/ml. Detection: Chemiluminescence with an exposure time of 30 seconds.

Rabbit Polyclonal
Species Human, Mouse
Applications WB, IB, IHC

19 Publications
Dihydrolipoamide Dehydrogenase/DLD Antibody
NBP1-31302
Western Blot: Dihydrolipoamide Dehydrogenase/DLD Antibody [NBP1-31302] - Wild-type (WT) and DLD knockout (KO) HeLa cell extracts (30 ug) were separated by 10% SDS-PAGE, and the membrane was blotted with DLD antibody diluted at 1:500. HRP-conjugated anti-rabbit IgG antibody was used to detect the primary antibody.Immunocytochemistry/Immunofluorescence: Dihydrolipoamide Dehydrogenase/DLD Antibody [NBP1-31302] - HeLa cells were fixed in ice-cold MeOH for 5 min. Green: DLD protein stained by DLD antibody diluted at 1:500. Blue: Hoechst 33342 staining.

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

     1 Review

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
Ornithine Carbamoyltransferase Antibody
NBP1-87408
Immunohistochemistry-Paraffin: Ornithine Carbamoyltransferase Antibody [NBP1-87408] - Staining in human liver and kidney tissues . Corresponding OTC RNA-seq data are presented for the same tissues.Immunohistochemistry-Paraffin: Ornithine Carbamoyltransferase Antibody [NBP1-87408] - Staining of human cerebral cortex, kidney, liver and small intestine using Anti-OTC antibody NBP1-87408 (A) shows similar protein distribution across tissues to independent antibody NBP1-88121 (B).

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

5 Publications
Glutathione Reductase Antibody
NBP2-16684
Western Blot: Glutathione Reductase Antibody [NBP2-16684] - Whole cell extract (30 ug) was separated by 10% SDS-PAGE, and the membrane was blotted with Glutathione Reductase antibody [N2C2], Internal diluted at 1:1000. The HRP-conjugated anti-rabbit IgG antibody (NBP2-19301) was used to detect the primary antibody.Immunohistochemistry-Paraffin: Glutathione Reductase Antibody [NBP2-16684] - Rat brain. Glutathione reductase antibody [N2C2], Internal diluted at 1:500. Antigen Retrieval: Citrate buffer, pH 6.0, 15 min.

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

3 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
Serpin A3N Antibody [Unconjugated]
AF4709

Goat Polyclonal
Species Mouse
Applications WB, IP

34 Publications
Growth Hormone Antibody [Unconjugated]
AF1067
Western blot shows lysates of human, mouse, and rat pituitary gland tissue. PVDF membrane was probed with 0.5 µg/mL of Goat Anti-Human Growth Hormone Antigen Affinity-purified Polyclonal Antibody (Catalog # AF1067) followed by HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # <a class=Growth Hormone was detected in immersion fixed paraffin-embedded sections of human pituitary using Goat Anti-Human/Mouse/Rat Growth Hormone Antigen Affinity-purified Polyclonal Antibody (Catalog # AF1067) at 10 µg/mL overnight at 4 °C. Tissue was stained using the Anti-Goat HRP-DAB Cell & Tissue Staining Kit (brown; Catalog # <a class=

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

15 Publications
Catalase Antibody [Unconjugated]
AF3398
Western blot shows lysates of Jurkat human acute T cell leukemia cell line, Raji human Burkitt's lymphoma cell line, HeLa human cervical epithelial carcinoma cell line, NIH-3T3 mouse embryonic fibroblast cell line, A20 mouse B cell lymphoma cell line, and Rat-2 rat embryonic fibroblast cell line. PVDF membrane was probed with 0.5 µg/mL of Goat Anti-Human/Mouse/Rat Catalase Antigen Affinity-purified Polyclonal Antibody (Catalog # AF3398) followed by HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # <a class=Simple Western lane view shows lysates of Jurkat human acute T cell leukemia cell line and Raji human Burkitt's lymphoma cell line, loaded at 0.2 mg/mL. A specific band was detected for Catalase at approximately 62 kDa (as indicated) using 5 µg/mL of Goat Anti-Human/Mouse/Rat Catalase Antigen Affinity-purified Polyclonal Antibody (Catalog # AF3398) followed by 1:50 dilution of HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # <a class=

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

     3 Reviews

15 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
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

224 Publications
GM-CSF [Unconjugated]
7954-GM/CF
Measured in a cell proliferation assay using TF-1 human erythroleukemic cells. The ED<sub>50</sub> for this effect is 6-30 pg/mL.


Species Human
Applications BA

3 Publications
LAMC2 Antibody (CL2980)
NBP2-42388
Immunohistochemistry-Paraffin: LAMC2 Antibody (CL2980) [NBP2-42388] - Staining in human fallopian tube and liver tissues. Corresponding LAMC2 RNA-seq data are presented for the same tissues.Western Blot: LAMC2 Antibody (CL2980) [NBP2-42388] - Analysis in A-431 cells transfected with control siRNA, target specific siRNA probe #1 and #2, using Anti-LAMC2 antibody. Remaining relative intensity is presented. Loading control: Anti-GAPDH.

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

4 Publications
Butyrylcholinesterase/BCHE Antibody [Unconjugated]
AF9024
Western blot shows lysates of mouse heart tissue and mouse liver tissue. PVDF membrane was probed with 1 µg/mL of Goat Anti-Mouse/Rat Butyrylcholinesterase/BCHE Polyclonal Antibody (Catalog # AF9024) followed by HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # <a class=Butyrylcholinesterase/BCHE was detected in perfusion fixed frozen sections of mouse brain using Goat Anti-Mouse/Rat Butyrylcholinesterase/BCHE Antigen Affinity-purified Polyclonal Antibody (Catalog # AF9024) at 5 µg/mL overnight at 4 °C. Tissue was stained using the Anti-Goat HRP-DAB Cell & Tissue Staining Kit (brown; Catalog # <a class=

Goat Polyclonal
Species Mouse, Rat
Applications WB, IHC

2 Publications
GCDH Antibody
NBP2-48549
Immunohistochemistry-Paraffin: GCDH Antibody [NBP2-48549] - Analysis in human liver and testis tissues using NBP2-48549 antibody. Corresponding GCDH RNA-seq data are presented for the same tissues.Immunohistochemistry-Paraffin: GCDH Antibody [NBP2-48549] - Staining of human kidney, liver, pancreas and testis using Anti-GCDH antibody NBP2-48549 (A) shows similar protein distribution across tissues to independent antibody NBP2-48907 (B).

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

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
Glutathione Synthetase Antibody (JB95-33)
NBP2-75513
Western Blot: Glutathione Synthetase Antibody (JB95-33) [NBP2-75513] - Analysis of Glutathione Synthetase on different lysates using anti-Glutathione Synthetase antibody at 1/500 dilution.Positive control:Lane 1: SiHa Lane 2: Mouse colonLane 3: Rat liverImmunocytochemistry/Immunofluorescence: Glutathione Synthetase Antibody (JB95-33) [NBP2-75513] - Staining Glutathione Synthetase in LOVO cells (green). The nuclear counter stain is DAPI (blue). Cells were fixed in paraformaldehyde, permeabilised with 0.25% Triton X100/PBS.

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

1 Publication
Biotinidase/BTD Antibody
NBP2-97093
Western Blot: Biotinidase/BTD Antibody [NBP2-97093] - Anti-Biotinidase/BTD rabbit polyclonal antibody at 1:500 dilution. Lane A: Jurkat Whole Cell Lysate. Lysates/proteins at 30 ug per lane. Secondary Goat Anti-Rabbit IgG H&L (Dylight 800) at 1/10000 dilution. Developed using the Odyssey technique. Performed under reducing conditions. Predicted band size: 61 kDa. Observed band size: 48 kDaImmunohistochemistry-Paraffin: Biotinidase/BTD Antibody [NBP2-97093] - Immunochemical staining of human Biotinidase/BTD in human liver with rabbit polyclonal antibody (1:5000, formalin-fixed paraffin embedded sections).

Rabbit Polyclonal
Species Human
Applications WB, ELISA, IHC


Related Genes

Inborn Errors Of Metabolism has been researched against:

Related Pathways

Inborn Errors Of Metabolism has been linked to:

Related Diseases

Inborn Errors Of Metabolism has been studied in relation to diseases such as:

Related PTMs

Inborn Errors Of Metabolism has been studied in relation to posttranslational modifications (PTMs) including:

Alternate Names

Inborn Errors Of Metabolism is also known as Congenital Metabolic Disorder, Inborn Error Of Metabolism, Inborn Errors Metabolism, Inborn Metabolism Error, Inborn Metabolism Errors.