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Fabry Disease: Disease Bioinformatics

Research of Fabry Disease has been linked to Angiokeratoma, Kidney Diseases, Pain, Hypertrophy, Lysosomal Storage Diseases. The study of Fabry Disease has been mentioned in research publications which can be found using our bioinformatics tool below. Researched pathways related to Fabry Disease include Pathogenesis, Excretion, Glomerular Filtration, Lipid Storage, Localization. These pathways complement our catalog of research reagents for the study of Fabry Disease including antibodies and ELISA kits against GLA, NAT8, ELF3, GB3, NAGA.

Top Research Reagents

We have 1251 products for the study of Fabry Disease that can be applied to Chromatin Immunoprecipitation (ChIP), Flow Cytometry, Immunocytochemistry/ Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.

Arylsulfatase A/ARSA Antibody
NBP1-00154
Western Blot: Arylsulfatase A/ARSA Antibody [NBP1-00154] - Western blot analysis of Mouse testes lysate (A) + peptide (B) with antibody at 1 ug/mL and Rat testes lysate (C) + peptide (D) with antibody at 0.3 ug/mL, 35ug protein in RIPA buffer. Detected by chemiluminescence.Immunocytochemistry/Immunofluorescence: Arylsulfatase A/ARSA Antibody [NBP1-00154] - Immunofluorescence analysis of paraformaldehyde fixed HeLa cells, permeabilized with 0.15% Triton. Primary incubation 1hr (10 ug/mL) followed by Alexa Fluor 488 secondary antibody (2 ug/mL), showing Golgi apparatus 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).

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

1 Publication
Glucosylceramidase/GBA Antibody (2E2)
H00002629-M01
Western Blot: Glucosylceramidase/GBA Antibody (2E2) [H00002629-M01] - Effect of Diltiazem on L444P and N370S/V394L GC Folding and Trafficking.Western blot analysis of untreated and diltiazem-treated L444P GC cells. L444P GC cells were cultured without or with diltiazem at varying concentrations for 7 d before the cells were lysed for SDS-PAGE and Western blot analysis. GC was detected using mouse anti-GC antibody 2E2. Beta-actin served as a loading control. Image collected and cropped by CiteAb from the following publication (//dx.plos.org/10.1371/journal.pbio.0060026) licensed under a CC-BY license.Immunocytochemistry/Immunofluorescence: Glucosylceramidase/GBA Antibody (2E2) [H00002629-M01] - Analysis of monoclonal antibody to GBA on HeLa cell. Antibody concentration 10 ug/ml.

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

     1 Review

10 Publications
ELF3/ESE-1 Antibody
NBP1-30873
Western Blot: ELF3/ESE-1 Antibody [NBP1-30873] - Loss of Elf3 preserves the mesenchymal state. Immunoblot showing ELF3 and E-cadherin protein levels in response to Elf3 silencing by siRNAs. Image collected and cropped by CiteAb from the following publication (https://www.mdpi.com/2073-4409/8/8/858) licensed under a CC-BY license.Immunocytochemistry/Immunofluorescence: ELF3/ESE-1 Antibody [NBP1-30873] - Methanol-fixed HeLa, using antibody at 1:500 dilution.

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

3 Publications
NAT8 Antibody (OTI5A8)
NBP1-47863
Western Blot: NAT8 Antibody (5A8) [NBP1-47863] - HEK293T cells were transfected with the pCMV6-ENTRY control (Left lane) or pCMV6-ENTRY NAT8 (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 anti-NAT8.Immunocytochemistry/Immunofluorescence: NAT8 Antibody (5A8) [NBP1-47863] Staining of COS7 cells transiently transfected by pCMV6-ENTRY NAT8.

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

Glutaminyl-peptide Cyclotransferase/QPCT Antibody
NBP1-81838
Immunohistochemistry-Paraffin: Glutaminyl-peptide Cyclotransferase/QPCT Antibody [NBP1-81838] - Staining in human adrenal gland and liver tissues using anti-QPCT antibody. Corresponding QPCT RNA-seq data are presented for the same tissues.Western Blot: Glutaminyl-peptide Cyclotransferase/QPCT Antibody [NBP1-81838] - Analysis in human cell line SK-MEL-30.

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

1 Publication
alpha-N-acetylgalactosaminidase/NAGA Antibody
NBP1-84318
Western Blot: alpha-N-acetylgalactosaminidase/NAGA Antibody [NBP1-84318] - Analysis in human cell line TD47D.Immunohistochemistry-Paraffin: alpha-N-acetylgalactosaminidase/NAGA Antibody [NBP1-84318] - Staining of human testis shows strong granular cytoplasmic positivity in cells in seminiferous ducts.

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

VSIG2 Antibody (OTI2D8)
NBP2-03376
Western Blot: VSIG2 Antibody (2D8) [NBP2-03376] Analysis of extracts (35ug) from 9 different cell lines by using anti-VSIG2 monoclonal antibody (HepG2: human; HeLa: human; SVT2: mouse; A549: human; COS7: monkey; Jurkat: human; MDCK: canine; PC12: rat; MCF7: human).Immunocytochemistry/Immunofluorescence: VSIG2 Antibody (2D8) [NBP2-03376] - Staining of COS7 cells transiently transfected by pCMV6-ENTRY VSIG2.

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

Cystathionase Antibody (4E1-1B7)
H00001491-M01
Western Blot: Cystathionase Antibody (4E1-1B7) [H00001491-M01] - Analysis of CTH expression in transfected 293T cell line by CTH monoclonal antibody (M01), clone 4E1-1B7.Lane 1: CTH transfected lysate (Predicted MW: 44.5 KDa).Lane 2: Non-transfected lysate.Immunohistochemistry-Paraffin: Cystathionase Antibody (4E1-1B7) [H00001491-M01] - Immunoperoxidase of monoclonal antibody to CTH ( Cat # H00001491-M01 ) on formalin-fixed paraffin-embedded human colon. [antibody concentration 3ug/ml]

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

32 Publications
Progesterone R/NR3C3 Antibody [Unconjugated]
AF5415
Western blot shows lysates of T47D human breast cancer cell line. PVDF membrane was probed with 1 µg/mL of Sheep Anti-Human Progesterone R/NR3C3 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF5415) followed by HRP-conjugated Anti-Sheep IgG Secondary Antibody (Catalog # <a class=Progesterone R/NR3C3 was detected in immersion fixed T47D human breast cancer cell line using Sheep Anti-Human Progesterone R/NR3C3 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF5415) at 1.7 µg/mL for 3 hours at room temperature. Cells were stained using the NorthernLights™ 557-conjugated Anti-Sheep IgG Secondary Antibody (red; Catalog # <a class=

Sheep Polyclonal
Species Human
Applications WB, Simple Western, IHC

2 Publications
Galactosylceramidase/GALC [Unconjugated]
7310-GH
Recombinant Human Lysosomal alpha-Glucosidase/GAA Protein, CF (<a class=NoLineLink href=Recombinant Human Galactosylceramidase/GALC Protein, CF (Catalog # 7310-GH) is measured by its ability to cleave a fluorogenic substrate, 4-Methylumbelliferyl-beta -D-galactopyranoside.


Species Human
Applications EnzAct

3 Publications
alpha-Galactosidase A/GLA [Unconjugated]
6146-GH
Recombinant Human alpha-Galactosidase A/GLA Protein, CF (Catalog # 6146-GH) hydrolyses the terminal alpha -galactosyl moieties from glycolipids and glycoproteins predominantly ceramide trihexoside.Recombinant Human alpha-Galactosidase A/GLA Protein, CF (Catalog # 6146-GH) is measured by its ability to hydrolyze 4-methylumbelliferyl-alpha -D-galactopyranoside.


Species Human
Applications EnzAct

3 Publications
beta-Galactosidase-1/GLB1 Antibody (OTI1C9)
NBP2-45731
Western Blot: beta-Galactosidase-1/GLB1 Antibody (OTI1C9) [NBP2-45731] - Analysis of extracts (35ug) from 9 different cell lines by using anti-GLB1 monoclonal antibody (HepG2: human; HeLa: human; SVT2: mouse; A549: human; COS7: monkey; Jurkat: human; MDCK: canine; PC12: rat; MCF7: human).Immunohistochemistry: beta-Galactosidase-1/GLB1 Antibody (1C9) [NBP2-45731] - Analysis of Adenocarcinoma of Human ovary tissue. (Heat-induced epitope retrieval by 10mM citric buffer, pH6.0, 120C for 3min)

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

6 Publications
SMPD1 Antibody (OTI3H7)
NBP2-45889
Western Blot: SMPD1 Antibody (3H7) [NBP2-45889] - Analysis of HEK293T cells were transfected with the pCMV6-ENTRY control (Left lane) or pCMV6-ENTRY SMPD1.Immunohistochemistry: SMPD1 Antibody (3H7) [NBP2-45889] - Analysis of Human tonsil tissue. (Heat-induced epitope retrieval by 1 mM EDTA in 10mM Tris, pH8.5, 120C for 3min)

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

4 Publications
TMEM37 Antibody
NBP2-47602
Immunocytochemistry/Immunofluorescence: TMEM37 Antibody [NBP2-47602] - Immunofluorescent staining of human cell line Hep G2 shows localization to nucleus, nucleoli fibrillar center & cytosol.Immunohistochemistry-Paraffin: TMEM37 Antibody [NBP2-47602] - Staining in human kidney and pancreas tissues using anti-TMEM37 antibody. Corresponding TMEM37 RNA-seq data are presented for the same tissues.

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

c-Fos Antibody (2H2)
NBP2-50037
Western Blot: c-Fos Antibody (2H2) [NBP2-50037] - Top panel: Analysis of c-Fos expression in HeLa cells using NBP2-50037. Lane 1: HeLa cells were serum-starved for 36 hours. Lane 2: Serum-starved HeLa cells were stimulated with 20% FBS (fetal bovine serum) for 2 hours. NBP2-50037 recognizes bands in the range of 50-65 kDa, which represent multiple forms of c-Fos. Serum starvation attenuates c-Fos expression, while 20% FBS strongly stimulates c-Fos expression. Bottom panel: Blot was stripped and probed with monoclonal antibody against GAPDH (NB300-221) used as loading control.Immunocytochemistry/Immunofluorescence: c-Fos Antibody (2H2) [NBP2-50037] - Section of rat hippocampus stained with mouse monoclonal antibody to c-FOS NBP2-50037 in red and counterstained with rabbit polyclonal antibody to FOX3/NeuN. DAPI reveals nuclei of neurons and glia in blue. The hippocampal neurons stain green for FOX3/NeuN and a few also are expressing c-FOS, and so appear orange. These cells were spontaneously active at the time the animal was sacrificed.

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

     1 Review

19 Publications
RAPGEF5 Antibody
NBP2-57362
Western Blot: RAPGEF5 Antibody [NBP2-57362] - Analysis in human cell line RT-4, human cell line U-251 MG and human plasma.Immunocytochemistry/Immunofluorescence: RAPGEF5 Antibody [NBP2-57362] - Staining of human cell line PC-3 shows localization to nucleoplasm & nuclear bodies.

Rabbit Polyclonal
Species Human
Applications WB, ICC/IF

IKBKAP Antibody (6G9)
H00008518-M03
Western Blot: IKBKAP Antibody (6G9) [H00008518-M03] - Analysis of IKBKAP expression in HeLa (Cat # L013V1).Immunohistochemistry-Paraffin: IKBKAP Antibody (6G9) [H00008518-M03] - Analysis of monoclonal antibody to IKBKAP on formalin-fixed paraffin-embedded human colon. Antibody concentration 3 ug/ml

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

2 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

Fabry Disease has been researched against:

Related Pathways

Fabry Disease has been linked to:

Related Diseases

Fabry Disease has been studied in relation to diseases such as:

Related PTMs

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

Alternate Names

Fabry Disease is also known as fabry disease, alpha-galactosidase a deficiency, fabry's disease (disorder), angiokeratoma diffuse, alpha galactosidase deficiency, deficiency of melibiase, angiokeratoma, diffuse, fabry's disease, angiokeratoma, malnutrition.