HJV recombinant protein

Recombinant Human HJV protein

Cat. Num. AAA1561144

• Gene Names: HFE2; JH; HJV; RGMC; HFE2A
• Purity: >90% as determined by SDS-PAGE
• Synonyms: HJV; Recombinant Human HJV protein; Hemojuvelin; Hemochromatosis type 2 protein; Hemojuvelin BMP coreceptor; RGM domain family member C; HFE2A; JH; RGMC; HJV recombinant protein

• Host: E Coli
• Purity/Purification: >90% as determined by SDS-PAGE
• Form/Format: Lyophilized. Lyophilized from PBS pH 7.4, 0.2% NLS, 5% Trehalose, 5% Mannose, 1mM EDTA.

• Species: Homo sapiens (Human)
• Protein Construction: A DNA sequence encoding the human HJV (Met227-Asp400) was fused with His tag
• Reconstitution: Reconstitute in sterile water for a stock solution.
• Preparation and Storage: Store at 2 to 8 degree C for one week. Store at -20 to -80 degree C for twelve months from the date of receipt. Use a manual defrost freezer and avoid repeated freeze thaw cycles.; In general, proteins are provided as lyophilized powder/frozen liquid. They are shipped out with dry ice/blue ice unless customers require otherwise.

Related Product Information for HJV recombinant protein

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).

Product Categories/Family for HJV recombinant protein

Protein

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
• 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