Rabbit anti-Human HFE2 Polyclonal Antibody | anti-HFE2 antibody

HFE2, ID (HFE2, HJV, RGMC, Hemojuvelin, Hemochromatosis type 2 protein, RGM domain family member C) (PE)

Cat. Num. AAA6306306

• Gene Names: HFE2; JH; HJV; RGMC; HFE2A
• Reactivity: Human
• Applications: Immunohistochemistry, Western Blot
• Purity: Purified by Protein A and Peptide Affinity Chromatography.
• Synonyms: HFE2; Polyclonal Antibody; ID (HFE2; HJV; RGMC; Hemojuvelin; Hemochromatosis type 2 protein; RGM domain family member C) (PE); RGM domain family member C; anti-HFE2 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Recognizes human HFE2.
• Purity/Purification: Purified by Protein A and Peptide Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with R-Phycoerythrin (PE).

• Applicable Applications for anti-HFE2 antibody: Immunohistochemistry (IHC) Paraffin, FLISA, Western Blot (WB)
• Application Notes: Applications are based on unconjugated antibody.
• Immunogen: KLH-conjugated synthetic peptide mapping to a fragment of residues within amino acids 134-162 in the central region of human HFE2, Swiss/UniProt Accession: Q6ZVN8
• Conjugate: PE
• Note: Preservative Free
• Special Handling: Light sensitive
• Preparation and Storage: Store product at 4 degree C in the dark. DO NOT FREEZE! Stable at 4 degree C for 12 months after receipt as an undiluted liquid. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. Caution: PE conjugates are sensitive to light. For maximum recovery of product, centrifuge the original vial prior to removing the cap.

Western Blot (WB)

(Western Blot analysis of lysates from human skeletal muscle and heart tissue lysates (from left to right, 35ug/lane), using MBS6003122 (1:1000/lane). IgG H&L (HRP) goat anti-rabbit was used as the secondary antibody.)

Immunohistochemistry (IHC)

(Immunohistochemistry analysis in formalin fixed and paraffin embedded skeletal muscle using MBS6003122 followed by peroxidase conjugation of the secondary antibody and DAB staining. This data demonstrates the use of MBS6003122 for immunohistochemistry.)

Product Categories/Family for anti-HFE2 antibody

Antibodies; Proteins

References

1. Zhu, X., et al. Genet. Epidemiol. 34(2):171-187(2010). 2. Barton, J.C., et al. Am. J. Hematol. 84(11):710-714(2009). 3. Zhang, A.S., et al. J. Biol. Chem. 284(34):22580-22589(2009).

NCBI and Uniprot Product Information

• NCBI GI #: 51316254
• NCBI GeneID: 148738
• UniProt Accession #: Q6ZVN8; Q2PQ63; Q6IMF6; Q8NAH2; Q8WVJ5; B1ALI7
• Molecular Weight: 426
• NCBI Official Full Name: Hemojuvelin
• NCBI Official Synonym Full Names: hemochromatosis type 2 (juvenile)
• NCBI Official Symbol: HFE2
• NCBI Official Synonym Symbols: JH; HJV; RGMC; HFE2A
• NCBI Protein Information: hemojuvelin; haemojuvelin; RGM domain family member C; repulsive guidance molecule c; hemochromatosis type 2 protein
• UniProt Protein Name: Hemojuvelin
• Protein Family: Hemojuvelin
• UniProt Gene Name: HFE2
• UniProt Synonym Gene Names: HJV; RGMC
• UniProt Entry Name: RGMC_HUMAN

NCBI Description

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. [provided by RefSeq, Jul 2008]

Uniprot Description

HFE2: Member of the repulsive guidance molecule (RGM) family. Involved in iron metabolism. Acts as a bone morphogenetic protein (BMP) coreceptor. Enhancement of BMP signaling regulates hepcidin (HAMP) expression and iron metabolism. May cooperate with hepcidin to restrict iron absorption in the gut. Could represent the cellular receptor for hepcidin. Defects in HFE2 are the cause of hemochromatosis type 2A (HFE2A); also known as juvenile hemochromatosis (JH). HFE2A 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. It is the consequence of intestinal iron hyperabsorption associated with macrophages that do not load iron. Deleterious mutations of HFE2 reduced HAMP (hepcidin) levels despite iron overload, which normally induces HAMP expression. Belongs to the repulsive guidance molecule (RGM) family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, GPI anchor

Chromosomal Location of Human Ortholog: 1q21.1

Cellular Component: extracellular space; cell surface; plasma membrane

Molecular Function: protein binding; coreceptor activity

Biological Process: BMP signaling pathway; axon guidance; iron ion homeostasis; positive regulation of transcription from RNA polymerase II promoter

Disease: Hemochromatosis, Type 2a