HFE2 Antibody

Catalog Number:

32789

Amount:

100μg

Price:

$319

Swiss-Prot No:

Swiss-Prot:Q6ZVN8
NCBI Gene ID:148738

Form of Antibody:

Supplied at 1.0mg/mL in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.

Storage/Stability:

Immunogen:

Recombinant protein of human HFE2.

Purification:

Antibodies were purified by affinity purification using immunogen.

Specificity/Sensitivity:

The antibody detects endogenous level of total HFE2 protein.

Applications:

WB

Background:

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. 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.

References:

appl_detail:

WB 1:500 - 1:2000

Datasheet PDF