Human Hemojuvelin/RGM-C/HJV ELISA Kit PicoKine®

SKU: EK1369

Size: 96 wells/kit, with removable strips.

Storage: Store at 4℃ for 6 months, at -20℃ for 12 months. Avoid multiple freeze-thaw cycles (Ships with gel ice, can store for up to 3 days in room temperature. Freeze upon receiving.)

Form:

Reactivity: Human

Applications: ELISA

Application Details:

Gene Name: HJV

Specificity: Natural and recombinant human Hemojuvelin

Background: Hemojuvelin (HJV/RGMc/HFE2) is a membrane-bound and soluble protein in mammals. It is a member of the repulsive guidance molecule family of proteins. In humans, the hemojuvelin protein is encoded by the HFE2 gene. 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.

Immunogen: Expression system for standard: NS0; Immunogen sequence: Q36-D400

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Reference:

Uniprot ID: Q6ZVN8

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Cross Reactivity: There is no detectable cross-reactivity with other relevant proteins.

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Gene ID: 148738

Protein Name: Hemojuvelin

Gene Full Name: hemojuvelin BMP co-receptor

Synonyms: Hemochromatosis type 2 protein; Hemojuvelin; HFE2; HFE2A; HJV; JH; RGM domain family member C; RGMC