Rabbit HFE2 Polyclonal Antibody | anti-HFE2 antibody

HFE2 Antibody

Cat. Num. AAA9408495

• Gene Names: HFE2; JH; HJV; RGMC; HFE2A
• Reactivity: Human, Mouse, Rat
• Applications: Western Blot, Immunohistochemistry
• Purity: Antibodies were purified by affinity purification using immunogen.
• Synonyms: HFE2; Polyclonal Antibody; HFE2 Antibody; JH; HJV; RGMC; HFE2A; anti-HFE2 antibody

• Host: Rabbit
• Reactivity: Human, Mouse, Rat
• Clonality: Polyclonal
• Specificity: The antibody detects endogenous level of total HFE2 protein.
• Purity/Purification: Antibodies were purified by affinity purification using immunogen.
• Form/Format: 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.
• Concentration: 1.0 mg/ml (varies by lot)
• Sequence Length: 313

• Applicable Applications for anti-HFE2 antibody: Western Blot (WB), Immunohistochemistry (IHC)
• Application Notes: Western blotting: 1:500 - 1:2000; Immunohistochemistry: 1:50 - 1:200
• Immunogen Type: Recombinant Protein
• Immunogen Description: Recombinant protein of human HFE2.
• Target Name: HFE2
• Preparation and Storage: Store at -20 degree C

Western Blot (WB)

(Western blot analysis of extracts of various cell lines, using HFE2 antibody.)

Related Product Information for anti-HFE2 antibody

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.

Product Categories/Family for anti-HFE2 antibody

Total protein Ab

NCBI and Uniprot Product Information

• NCBI GI #: 44662823
• NCBI GeneID: 148738
• NCBI Accession #: NP_660320.3
• NCBI GenBank Nucleotide #: NM_145277.4
• UniProt Accession #: Q6ZVN8; Q2PQ63; Q6IMF6; Q8NAH2; Q8WVJ5; B1ALI7
• Molecular Weight: 21,463 Da
• NCBI Official Full Name: hemojuvelin isoform b
• 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
• 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