Repulsive Guidance Molecule C (HFE2) (NM_213653) Human Recombinant Protein

CAT#: TP762285

Purified recombinant protein of Human hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, Gln36-Leu263, with N-terminal His tag, expressed in E.coli, 50ug

Product Images

Purified recombinant protein HFE2 was analyzed by SDS-PAGE gel and Coomossie Blue Staining.

Specifications

Product Data

• Species: Human
• Expression Host: E. coli
• Expression cDNA Clone or AA Sequence:
  Protein Sequence

  A DNA sequence encoding the region(Gln36-Leu263) of HFE2
• Tag: N-His
• Predicted MW: 24.1 kDa
• Concentration: >50 ug/mL as determined by microplate BCA method
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Buffer: 50mM Tris, pH8.0, 8M Urea
• Storage: Store at -80°C after receiving vials.
• Stability: Stable for at least 1 year from receipt of products under proper storage and handling conditions. Avoid repeated freeze-thaw cycles.

Reference Data

• RefSeq: NP_998818
• Locus ID: 148738
• UniProt ID: Q6ZVN8, A0A024R4F5
• Cytogenetics: 1q21.1
• Refseq Size: 2128
• Refseq ORF: 1278
• Synonyms: HFE2; HFE2A; JH; RGMC
• Summary: 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]
• Protein Families: Transmembrane