Recombinant Human HFE2 Protein, GST-tagged

• Cat.No.: HFE2-4722H
• Product Overview: Human HFE2 partial ORF ( NP_973733, 93 a.a. - 173 a.a.) recombinant protein with GST-tag at N-terminal.

Specification

• 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
• Source: Wheat Germ
• Species: Human
• Tag: GST
• Molecular Mass: 34.65 kDa
• AA Sequence: GGCPPSQRLSRSERNRRGAITIDTA RRLCKEGLPVEDAYFHSCVFDVLIS GDPNFTVAAQAALEDARAFLPDLEK LHLFPS
• Applications: Enzyme-linked Immunoabsorbent Assay
  Western Blot (Recombinant protein)
  Antibody Production
  Protein Array
• Notes: Best use within three months from the date of receipt of this protein.
• Storage: Store at -8 centigrade. Aliquot to avoid repeated freezing and thawing.
• Storage Buffer: 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.

Gene Information

• Gene Name: HFE2 hemochromatosis type 2 (juvenile) [ Homo sapiens ]
• Official Symbol: HFE2
• Synonyms: HFE2; hemochromatosis type 2 (juvenile); hemojuvelin; haemojuvelin; HFE2A; HJV; JH; repulsive guidance molecule c; RGMC; RGM domain family member C; hemochromatosis type 2 protein; MGC23953
• Gene ID: 148738
• mRNA Refseq: NM_145277
• Protein Refseq: NP_660320
• MIM: 608374
• UniProt ID: Q6ZVN8