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Refsum Disease: Disease Bioinformatics

Research of Refsum Disease has been linked to Zellweger Syndrome, Adrenoleukodystrophy, Infantile Refsum Disease (disorder), Peroxisomal Disorders, Adrenoleukodystrophy, Neonatal. The study of Refsum Disease has been mentioned in research publications which can be found using our bioinformatics tool below. Researched pathways related to Refsum Disease include Pathogenesis, Localization, Protein Import, Transport, Fatty Acid Beta-oxidation. These pathways complement our catalog of research reagents for the study of Refsum Disease including antibodies and ELISA kits against CHONDRODYSPLASIA, PHYTANOYL-COA HYDROXYLASE, C22, ABCD1, CAT.

Top Research Reagents

We have 1104 products for the study of Refsum Disease that can be applied to Flow Cytometry, Immunocytochemistry/ Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.

PEX10 Antibody - BSA Free
NBP3-18137
Western Blot: PEX10 Antibody - BSA Free [NBP3-18137] - WB Validation in Rat Tissues. Loading: 15 ug of lysates per lane. Antibodies: PEX10 NBP3-18137, 4 ug/mL, 1h incubation at RT in 5% NFDM/TBST. Secondary: Goat anti-rabbit IgG HRP conjugate at 1:10,000 dilution.Western Blot: PEX10 Antibody - BSA Free [NBP3-18137] - WB Validation in Human and Mouse Cell Lines. Loading: 15 ug of lysate Antibodies: PEX10 NBP3-18137, 4 ug/mL , 1 h incubation at RT in 5% NFDM/TBST. Secondary: Goat Anti-Rabbit IgG HRP conjugate at 1:10,000 dilution.

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

PEX7 Antibody
NBP1-57578
Western Blot: PEX7 Antibody [NBP1-57578] - MCF-7 whole cell lysates, concentration 0.2-1 ug/ml.

Rabbit Polyclonal
Species Human
Applications WB

1 Publication
GNPAT Antibody
H00008443-B01P
Western Blot: GNPAT Antibody [H00008443-B01P] - Analysis of GNPAT expression in transfected 293T cell line by GNPAT polyclonal antibody. Lane 1: GNPAT transfected lysate(74.8 KDa). Lane 2: Non-transfected lysate.Immunocytochemistry/Immunofluorescence: GNPAT Antibody [H00008443-B01P] - Analysis of purified antibody to GNPAT on HeLa cell. (antibody concentration 10 ug/ml)

Mouse Polyclonal
Species Human
Applications WB, ICC/IF

PEX1 Antibody
NBP1-80577
Western Blot: PEX1 Antibody [NBP1-80577] - Analysis in human cell line AN3-CA.Immunocytochemistry/Immunofluorescence: PEX1 Antibody [NBP1-80577] - Staining of human cell line A-431 shows positivity in vesicles. Antibody staining is shown in green.

Rabbit Polyclonal
Species Human
Applications WB, ICC/IF

3 Publications
ZNF260 Antibody
NBP1-80967
Immunocytochemistry/Immunofluorescence: ZNF260 Antibody [NBP1-80967] - Immunofluorescent staining of human cell line A-431 shows localization to nucleoplasm & cytosol.Immunohistochemistry-Paraffin: ZNF260 Antibody [NBP1-80967] - Staining of human stomach shows strong nuclear and additional cytoplasmic positivity in glandular cells.

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

PEX13 Antibody
NBP1-86321
Immunohistochemistry-Paraffin: PEX13 Antibody [NBP1-86321] - Staining in human testis and pancreas tissues using anti-PEX13 antibody. Corresponding PEX13 RNA-seq data are presented for the same tissues.Immunohistochemistry-Paraffin: PEX13 Antibody [NBP1-86321] - Staining of human colon, kidney, liver and pancreas using Anti-PEX13 antibody NBP1-86321 (A) shows similar protein distribution across tissues to independent antibody NBP2-38204 (B).

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

alpha-Methylacyl-CoA Racemase/AMACR Antibody
NBP1-87168
Immunohistochemistry-Paraffin: alpha-Methylacyl-CoA Racemase/AMACR Antibody [NBP1-87168] - Staining in human kidney and pancreas tissues using anti-AMACR antibody. Corresponding AMACR RNA-seq data are presented for the same tissues.Immunohistochemistry-Paraffin: alpha-Methylacyl-CoA Racemase/AMACR Antibody [NBP1-87168] - Staining of human kidney, liver, lymph node and pancreas using Anti-AMACR antibody NBP1-87168 (A) shows similar protein distribution across tissues to independent antibody NBP1-87169 (B).

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

PHYH Antibody
NBP1-87349
Western Blot: PHYH Antibody [NBP1-87349] - Lane 1: Marker [kDa] 250, 130, 100, 70, 55, 35, 25, 15, 10 Lane 2: Mouse Cerebral Cortex tissueImmunohistochemistry-Paraffin: PHYH Antibody [NBP1-87349] - Staining of human liver shows cytoplasmic positivity in hepatocytes.

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

PHYHIP Antibody
NBP2-19813
Western Blot: PHYHIP Antibody [NBP2-19813] - Sample (50 ug of whole cell lysate) A: Mouse Brain, 10% SDS PAGE gel, diluted at 1:1000.Immunohistochemistry-Paraffin: PHYHIP Antibody [NBP2-19813] - Immunohistochemical analysis of paraffin-embedded U87 xenograft, using antibody at 1:500 dilution.

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

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
PHEX
8090-ZN


Species Human
Applications EnzAct

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
HSD17B4 Antibody (OTI4C4)
NBP2-46005
Western Blot: HSD17B4 Antibody (OTI4C4) [NBP2-46005] - Analysis of HEK293T cells were transfected with the pCMV6-ENTRY control (Left lane) or pCMV6-ENTRY HSD17B4.Immunohistochemistry: HSD17B4 Antibody (OTI4C4) [NBP2-46005] - Analysis of Carcinoma of Human liver tissue.

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

     1 Review

2 Publications
ABCD1 Antibody (OTI2C12)
NBP2-46476
Western Blot: ABCD1 Antibody (OTI2C12) [NBP2-46476] - Western blot shows lysates of TIME human endothelial parental cell line and ABCD1 knockout (KO) TIME cell line. PVDF membrane was probed with 1:2000 of Mouse Anti-Human ABCD1 Monoclonal Antibody (Catalog # NBP2-46476) followed by HRP-conjugated Anti-Mouse IgG Secondary Antibody (Catalog #HAF018). Specific band was detected for ABCD1 at approximately 75 kDa (as indicated) in the parental TIME cell line, but is not detectable in the knockout TIME cell line. This experiment was conducted under reducing conditions.Western Blot: ABCD1 Antibody (OTI2C12) [NBP2-46476] - Analysis of HEK293T cells were transfected with the pCMV6-ENTRY control (Left lane) or pCMV6-ENTRY ABCD1.

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

AAAS Antibody (5A1)
H00008086-M02
Western Blot: AAAS Antibody (5A1) [H00008086-M02] - AAAS monoclonal antibody (M02), clone 5A1. Analysis of AAAS expression in NIH/3T3.Immunohistochemistry-Paraffin: AAAS Antibody (5A1) [H00008086-M02] - Analysis of monoclonal antibody to AAAS on formalin-fixed paraffin-embedded human prostate. Antibody concentration 3 ug/ml.

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

PXMP3 Antibody - Azide and BSA Free
NBP2-94643
Western Blot: PXMP3 Antibody [NBP2-94643] - Analysis of extracts of various cell lines, using PXMP3 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: 20s.Immunohistochemistry-Paraffin: PXMP3 Antibody [NBP2-94643] - Immunohistochemistry of paraffin-embedded human placenta using PXMP3 Rabbit pAb (NBP2-94643) at dilution of 1:100 (40x lens). Perform high pressure antigen retrieval with 10 mM citrate buffer pH 6.0 before commencing with IHC staining protocol.

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


Related Genes

Refsum Disease has been researched against:

Related Pathways

Refsum Disease has been linked to:

Related Diseases

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

Related PTMs

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

Alternate Names

Refsum Disease is also known as refsum disease, heredopathia atactica polyneuritiformis, adult refsum disease, hmsn type iv, disorder of cornification 11 (phytanic acid type), hereditary motor and sensory neuropathy type iv, herditary sensory and motor neuropathy type 4, hereditary motor and sensory neuropathy iv, hereditary motorsensory neuropathy iv, respiratory distress syndrome, adult, hypertrophic neuropathy of refsum, doc 11 (phytanic acid type), classic refsum disease, retinitis pigmentosa, inherited neuropathy, refsum's disease, hsmn iv, hmsn iv, hmsn 4, crd, ard.