Repulsive Guidance Molecule C (HFE2) Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	ELISA, WB
Recommend Dilution	WB,1:500 - 1:2000 ELISA,Recommended starting concentration is 1 μg/mL. Please optimize the concentration based on your specific assay requirements.
Reactivity	Mouse, Rat
Host	Rabbit
Clonality	Polyclonal
Isotype	IgG
Formulation	Buffer: PBS with 0.02% sodium azide,50% glycerol,pH7.3.
Concentration	lot specific
Purification	Affinity purification
Conjugation	Unconjugated
Storage Condition	Store at -20℃. Avoid freeze / thaw cycles.
Predicted Protein Size	45kDa
Gene Name	hemochromatosis type 2 (juvenile)
Database Link	NP_973733 Entrez Gene 69585 MouseEntrez Gene 310681 Rat UniProt ID Q6ZVN8
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. 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.
Synonyms	HFE2A; HJV; JH; RGMC
Reference Data
Protein Families	Transmembrane

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