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.

Pack Size

100ul, 1ml, 20ul

Applications

ELISA, WB

Host Species

Rabbit

Ig Isotype

IgG

Antibody Type

Polyclonal Antibody

Organism Species

Human

Concentration

Product Synonyms

HFE2

Observed Mol Wt

45kDa

Alternative Names

JH; HFE2; RGMC; HFE2A

Immunogen (Antigen)

Recombinant protein

Format

Liquid

Buffer Formulation

50% glycerol, PBS with 0.02% sodium azide, pH7.3

Reactivity

Mouse, Rat

Uniprot ID

148738

Gene ID

Q6ZVN8

Purification

Antigen-specific affinity chromatography followed by Protein A affinity chromatography

Usage

For Research Use Only. Not for diagnostics or human use.

Shelf Life

12 months at time of shipping

Shipping

Shipped in Dry Ice at -20 Degree Celsius

Storage

Store at -20 Degree Celsius. It is recommended to aliquot and store to avoid repeated freeze-thaw as it affects the stability of the antibody.

Research Areas

Cancer, Cell Biology, Immunology, Neuroscience

KD/KO Validated

KD Validated

Disclaimer

The data indicated herein are as indicated and validated in our laboratory. These reagents are for research use only and not for in-vitro diagnostics or human use.

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