Hemojuvelin / HFE2 Recombinant Protein | HFE2 recombinant protein

Recombinant Human Hemojuvelin / HFE2 Protein (His tag)

Cat. Num. AAA2546275

• Gene Names: HFE2; JH; HJV; RGMC; HFE2A
• Purity: > 95 % as determined by SDS-PAGE
• Synonyms: Hemojuvelin / HFE2; Recombinant Human Hemojuvelin / HFE2 Protein (His tag); HFE2A; HJV; JH; RGMC; HFE2 recombinant protein

• Host: Baculovirus-Insect Cells
• Purity/Purification: > 95 % as determined by SDS-PAGE
• Form/Format: Lyophilized from sterile PBS, 500mM NaCl, pH 7.0, 10% gly
• Sequence Length: 200

• Application Notes: The secreted recombinant human HFE2 consists of 374 amino acids and predicts a molecular mass of 40 kDa. As a result of intracellular cleavage, the apparent molecular mass of the protein is approximately 20, 34 and 44 KDa in SDS-PAGE under reducing conditions, corresponding to the N-terminal, C-terminal portions and the full-length respectively.
• Predicted N Terminal: Gln 36
• Endotoxin: < 1.0 EU per mug of the protein as determined by the LAL method
• Preparation and Storage: Samples are stable for up to twelve months from date of receipt at -70 degree C

SDS-PAGE

Related Product Information for HFE2 recombinant protein

Background: Hemojuvelin, also known as HFE2, is a membrane-bound and soluble protein which belongs to the repulsive guidance molecule (RGM) family. It is known that RGMs function through Neogenin, a homologue of the Netrin receptor deleted in colon cancer. In mammals, RGM family consists of three glycoproteins which have discrete expression patterns and functions (RGM-A, RGM-B, and RGM-C). Hemojuvelin is expressed in adult and fetal liver, heart, and skeletal muscle. Hemojuvelin acts as a bone morphogenetic protein (BMP) coreceptor. Enhancement of BMP signaling regulates hepcidin (HAMP) expression and iron metabolism. It plays a key role in iron metabolism. Hemojuvelin represents the cellular receptor for hepcidin. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. Defects in hemojuvelin are the cause of hemochromatosis type 2A, also known as juvenile hemochromatosis (JH).

Description: A DNA sequence encoding the mature form of human HFE2 isoform a (Q6ZVN8-1) (Met 1-Ser 399) was fused with a polyhistidine tag at the C-terminus.

NCBI and Uniprot Product Information

• NCBI GI #: 942429604
• NCBI GeneID: 148738
• NCBI Accession #: NP_001303696.1
• NCBI GenBank Nucleotide #: NM_001316767.1
• UniProt Accession #: Q6ZVN8; Q2PQ63; Q6IMF6; Q8NAH2; Q8WVJ5; B1ALI7
• Molecular Weight: 21,463 Da
• NCBI Official Full Name: hemojuvelin isoform c
• 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

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. 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. [provided by RefSeq, Oct 2015]

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; plasma membrane

Molecular Function: coreceptor activity; glycoprotein binding; protein binding; receptor binding

Biological Process: activin receptor signaling pathway; BMP signaling pathway; cellular iron ion homeostasis; iron ion homeostasis; negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription from RNA polymerase II promoter; protein autoprocessing

Disease: Hemochromatosis, Type 2a