HFE2 Rabbit pAb

Polyclonal Antibodies

Store at -20°C. Avoid freeze / thaw cycles.|Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

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.

Recombinant fusion protein containing a sequence corresponding to amino acids 1-174 of human HFE2 (NP_998817.1).

45kDa

Cancer, Signal Transduction, Cell Biology Developmental Biology, Endocrine Metabolism, Neuroscience, Neurodegenerative Diseases Markers, Other Neurological disorders, Stem Cells.

148738

HJV