Mouse Anti-HFE2 (AA 234-416) Recombinant Antibody (CBFYH-1006) (CBMAB-H1947-FY)

Name: Mouse Anti-HFE2 (AA 234-416) Recombinant Antibody (CBFYH-1006)
SKU: CBMAB-H1947-FY
Rating: 5 (1 reviews)

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Datasheet

SDS

Request for COA

Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

CBFYH-1006

Application

ELISA

Immunogen

Recombinant HFE expressed in E. coli.

Specificity

Human

Antibody Isotype

IgG

Clonality

Monoclonal

Application Notes

The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format

Liquid

Concentration

0.5 mg/mL

Storage

Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Epitope

AA 234-416

More Infomation

Target

Full Name

hemochromatosis type 2 (juvenile)

Introduction

The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Two uORFs in the 5' UTR negatively regulate the expression and activity of the encoded protein. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30.

Entrez Gene ID

148738

UniProt ID

Q6ZVN8

Alternative Names

Hemochromatosis Type 2 (Juvenile); Hemochromatosis Type 2 Protein; Repulsive Guidance Molecule C; RGM Domain Family Member C; RGMC; HJV

Biological Process

BMP signaling pathway Source: Ensembl
Cellular iron ion homeostasis Source: Ensembl
Negative regulation of BMP signaling pathway Source: Ensembl
Negative regulation of transcription by RNA polymerase II Source: Ensembl
Positive regulation of transcription by RNA polymerase II Source: Ensembl

Cellular Location

Cell membrane; Membrane

Topology

Helical: 405-425

Mutlu, T., Ozoran, E., Trabulus, D. C., Talu, C. K., Erhan, D., Mete, M., & Guven, M. (2023). Expression of genes related to iron homeostasis in breast cancer. Molecular Biology Reports, 1-7.

Bharadwaj, N., Peyam, S., Bhatia, P., Bhatia, A., Das, R., Singh, M., ... & Jain, R. (2022). Impact of HFE-2 and HAMP Gene Variations on Iron Overload in Pediatric Patients with Non-Transfusion Dependent Thalassemia: A Pilot Study. Indian Journal of Hematology and Blood Transfusion, 38(1), 158-163.

Seyoum, Y., Baye, K., & Humblot, C. (2021). Iron homeostasis in host and gut bacteria–a complex interrelationship. Gut Microbes, 13(1), 1874855.

Julián-Serrano, S., Yuan, F., Wheeler, W., Benyamin, B., Machiela, M. J., Arslan, A. A., ... & Stolzenberg-Solomon, R. Z. (2021). Hepcidin-regulating iron metabolism genes and pancreatic ductal adenocarcinoma: a pathway analysis of genome-wide association studies. The American journal of clinical nutrition, 114(4), 1408-1417.

Sukhbaatar, N., & Weichhart, T. (2018). Iron regulation: macrophages in control. Pharmaceuticals, 11(4), 137.

Kawabata, H. (2018). The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis. International journal of hematology, 107(1), 31-43.

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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme Linked Immunospot (ELISpot)
Proteogenomic
Other Protocols

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Isotype control

For research use only. Not intended for any clinical use.

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