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Homocystinuria: Disease Bioinformatics

Research of Homocystinuria has been linked to Inborn Errors Of Metabolism, Hyperhomocysteinemia, Phenylketonurias, Thrombosis, Marfan Syndrome. The study of Homocystinuria has been mentioned in research publications which can be found using our bioinformatics tool below. Researched pathways related to Homocystinuria include Pathogenesis, Excretion, Coagulation, Transsulfuration, Methylation. These pathways complement our catalog of research reagents for the study of Homocystinuria including antibodies and ELISA kits against 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE, CYSTATHIONINE BETA SYNTHASE, SERPINC1, BTD, CBL.

Top Research Reagents

We have 906 products for the study of Homocystinuria that can be applied to Flow Cytometry, Immunocytochemistry/ Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.

CBS Antibody
NBP1-33518
Knockout Validated: CBS Antibody [NBP1-33518] - Wild-type (WT) and CBS knockout (KO) HeLa cell extracts (30 ug) were separated by 7.5% SDS-PAGE, and the membrane was blotted with CBS antibody. HRP-conjugated anti-rabbit IgG antibody was used to detect the primary antibody.Knockdown Validated: CBS Antibody [NBP1-33518] - Non-transfected (-) and transfected (+) 293T whole cell extracts (30 ug) were separated by 7.5% SDS-PAGE, and the membrane was blotted with CBS antibody. HRP-conjugated anti-rabbit IgG antibody was used to detect the primary antibody

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

MTRR Antibody
NBP1-57749
Western Blot: MTRR Antibody [NBP1-57749] - Antibody Titration: 1 ug/ml Positive control: Hela cell lysate.Immunohistochemistry: MTRR Antibody [NBP1-57749] - Formalin Fixed Paraffin Embedded Tissue: Human heart Tissue Observed Staining: Cytoplasmic Primary Antibody Concentration: N/A Other Working Concentrations: 1:600 Secondary Antibody: Donkey anti-Rabbit-Cy3 Secondary Antibody Concentration: 1:200 Magnification: 20X Exposure Time: 0.5 - 2.0 sec

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

Cbl-c Antibody
NBP1-78063
Western Blot: Cbl-c Antibody [NBP1-78063] - dominant band at ~52 kDa corresponding to Cbl-c (arrowhead) in transfected cell lysates (left panel). Lysates are from Hek 293T cells transfected with empty vector or with Cbl-c. The predicted size of Cbl-c is 52 kDa. Size markers in kDa are shown to the left of the panel. The right panel shows western blotting after first immunoprecipitating with Rabbit anti-Cbl-c followed by western blotting using a Goat anti-Cbl-c antibody.Immunohistochemistry: Cbl-c Antibody [NBP1-78063] - Staining of cells in tubuli in human kidney tissue. Tissue was formalin-fixed and paraffin embedded. Brown color indicates presence of protein, blue color shows cell nuclei.

Rabbit Polyclonal
Species Human
Applications WB, ELISA, IHC

Myelin PLP Antibody
NBP1-87781
Immunohistochemistry-Paraffin: Myelin PLP Antibody [NBP1-87781] - Staining in human cerebral cortex and pancreas tissues using anti-PLP1 antibody. Corresponding PLP1 RNA-seq data are presented for the same tissues.Immunohistochemistry-Paraffin: Myelin PLP Antibody [NBP1-87781] - Border of a demyelinated lesion. Image submitted by a verified customer review.

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

     1 Review

5 Publications
Serine Dehydratase Antibody (OTI3D3)
NBP2-01506
Western Blot: Serine Dehydratase Antibody (3D3) [NBP2-01506] - HEK293T cells were transfected with the pCMV6-ENTRY control (Left lane) or pCMV6-ENTRY Serine Dehydratase (Right lane) cDNA for 48 hrs and lysed. Equivalent amounts of cell lysates (5 ug per lane) were separated by Serine Dehydratase-PAGE and immunoblotted with anti-Serine Dehydratase.Immunocytochemistry/Immunofluorescence: Serine Dehydratase Antibody (3D3) [NBP2-01506] Staining of COS7 cells transiently transfected by pCMV6-ENTRY Serine Dehydratase.

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

Serine racemase Antibody (OTI2E3)
NBP2-02332
Western Blot: Serine racemase Antibody (2E3) [NBP2-02332] - HEK293T cells were transfected with the pCMV6- ENTRY control (Left lane) or pCMV6-ENTRY SRR (RC210359, Right lane) cDNA for 48 hrs and lysed. Equivalent amounts of cell lysates (5 ug per lane) were separated by SDS-PAGE and immunoblotted with antiSRR.Immunocytochemistry/Immunofluorescence: Serine racemase Antibody (2E3) [NBP2-02332] - Anti-SRR mouse monoclonal antibody immunofluorescent staining of COS7 cells transiently transfected by pCMV6-ENTRY SRR(RC210359).

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

Serpin C1/Antithrombin-III Antibody [Unconjugated]
AF1267

Goat Polyclonal
Species Human
Applications WB, IP, Neut

6 Publications
Peroxiredoxin 5 Antibody [Unconjugated]
AF5724
Western blot shows lysates of human, mouse, and rat brain tissue. PVDF membrane was probed with 1 µg/mL of Goat Anti-Human/Mouse/Rat Peroxiredoxin 5 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF5724) followed by HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # <a class=Peroxiredoxin 5 was detected in immersion fixed A549 human lung carcinoma cell line using Goat Anti-Human/Mouse/Rat Peroxiredoxin 5 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF5724) at 10 µg/mL for 3 hours at room temperature. Cells were stained using the NorthernLights™ 557-conjugated Anti-Goat IgG Secondary Antibody (red; Catalog # <a class=

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

PTHLH/PTHrP Antibody (677939) [Unconjugated]
MAB6734
PTHLH/PTHrP was detected in immersion fixed paraffin-embedded sections of human colon using Mouse Anti-Human PTHLH/PTHrP Monoclonal Antibody (Catalog # MAB6734) at 15 µg/mL overnight at 4 °C. Before incubation with the primary antibody, tissue was subjected to heat-induced epitope retrieval using Antigen Retrieval Reagent-Basic (Catalog # <a class=

Mouse Monoclonal
Species Human
Applications IHC

2 Publications
CBL Antibody (3B12) - BSA Free
NBP2-37574
Western Blot: CBL Antibody (3B12) [NBP2-37574] - Western blot analysis using C-CBL mouse mAb against RAJI (1), RAW264.7 (2), K562 (3), SKBR-3 (4), 3T3-L1 (5), THP-1 (6) and PC-12 (7) cell lysate.Immunocytochemistry/Immunofluorescence: CBL Antibody (3B12) [NBP2-37574] - Immunofluorescence analysis of Hela cells using C-CBL mouse mAb (green). Blue: DRAQ5 fluorescent DNA dye. Red: Actin filaments have been labeled with Alexa Fluor-555 phalloidin.

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

     1 Review

MTHFR Antibody (5D3) - BSA Free
NBP2-37607
Western Blot: MTHFR Antibody (5D3) [NBP2-37607] - Western blot analysis using MTHFR mouse mAb against Rat Heart cell lysate.Immunohistochemistry-Paraffin: MTHFR Antibody (5D3) [NBP2-37607] - Analysis of intima cancer tissues (left) and prostate tissues (right) using MTHFR mouse mAb with DAB staining.

Mouse Monoclonal
Species Human, Rat
Applications WB, ELISA, IHC

MMACHC Antibody (OTI1A4)
NBP2-45884
Western Blot: MMACHC Antibody (OTI1A4) [NBP2-45884] - HEK293T cells were transfected with the pCMV6-ENTRY control (Left lane) or pCMV6-ENTRY MMACHC cDNA for 48 hrs and lysed. Equivalent amounts of cell lysates (5 ug per lane) were separated by SDS-PAGE and immunoblotted with anti-MMACHC.Immunohistochemistry: MMACHC Antibody (OTI1A4) [NBP2-45884] - Analysis of Human colon tissue.

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

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
MTR Antibody
NB100-791
Western Blot: MTR Antibody [NB100-791] - Cgl null mice exhibit female-specific alteration of enzymes involved in the remethylation of methionine. Western blotting analysis of hepatic BHMT, MTHFR and MTR protein expression levels in male and female WT and Cgl null mice. Values shown represent the mean+-s.d., *Pless than 0.05, **Pless than 0.01, ***Pless than 0.001. Image collected and cropped by CiteAb from the following publication (//bio.biologists.org/cgi/doi/10.1242/bio.013433) licensed under a CC-BY license.Immunohistochemistry-Paraffin: MTR Antibody [NB100-791] - Human adrenal gland. Antibody at 3.8 ug/mL. Steamed antigen retrieval with citrate buffer pH 6, AP-staining.

Goat Polyclonal
Species Human, Mouse
Applications WB, IHC, IHC-P

     2 Reviews

3 Publications
Factor V Antibody (2280A) [Unconjugated]
MAB9856
HepG2 human hepatocellular carcinoma cell line was stained with Rabbit Anti-Human Coagulation Factor V Monoclonal Antibody (Catalog # MAB9856, filled histogram) or isotype control antibody (<a class=NoLineLink href=

Rabbit Monoclonal
Species Human
Applications ELISA, CyTOF-ready, ICFlow

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

PDXP Antibody - Azide and BSA Free
NBP2-93574
Western Blot: PDXP Antibody [NBP2-93574] - Analysis of extracts of various cell lines, using PDXP at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit . Exposure time: 10s.Immunocytochemistry/Immunofluorescence: PDXP Antibody [NBP2-93574] - Immunofluorescence analysis of L929 cells using PDXP Rabbit pAb (NBP2-93574) at dilution of 1:100. Blue: DAPI for nuclear staining.

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

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

Homocystinuria has been researched against:

Related Pathways

Homocystinuria has been linked to:

Related Diseases

Homocystinuria has been studied in relation to diseases such as:

Related PTMs

Homocystinuria has been studied in relation to posttranslational modifications (PTMs) including:

Alternate Names

Homocystinuria is also known as homocystinuria, homocystinuria caused by cystathionine beta-synthase deficiency, cystathionine beta synthase deficiency, homocystinuria, cystathionine beta-synthase deficiency, cystathionine beta-synthase deficiency disease, cystathionine beta-synthase deficiency, cystathionine synthase deficiency, homocystinuria (disorder), cbs deficiency.