HFE2 Rabbit pAb (APR25750N)

• Background:

  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.

• Synonyms:

  HFE2; HFE2A; HJV; JH; RGMC

• Gene ID:

  148738

• UniProt:

  Q6ZVN8

• Cellular Locus:

  Cell membrane, GPI-anchor, Lipid-anchor

• Dilution:

  WB 1:500 - 1:2000

• Form:

  Liquid

• Buffer:

  Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

• Molecular Weight:

  Calculated MW: 21kDa/33kDa/45kDa Observed MW: 52kDa

• Storage Conditions:

  Store at 4°C short term. For long-term storage, aliquot and store at -20°C or below. Stable for 12 months at -20°C. Avoid repeated freeze-thaw cycles.

• Overview:

  We constantly strive to ensure we provide our customers with the best antibodies. As a result of this work we offer this antibody in purified format. We are in the process of updating our datasheets. If you have any questions regarding this update, please feel free to contact our technical support team. This product is a high quality HFE2 Rabbit pAb (APR25750N) .

• Gene ID URL:

  https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=148738

• Uniprot URL:

  https://www.uniprot.org/uniprot/Q6ZVN8

• AA Sequence:

  MQECIDQKVYQAEVDNLPVAFEDGSINGGDRPGGSSLSIQTANPGNHVEIQAAYIGTTIIIRQTAGQLSFSIKVAEDVAMAFSAEQDLQLCVGGCPPSQRLSRSERNRRGAITIDTARRLCKEGLPVEDAYFHSCVFDVLISGDPNFTVAAQAALEDARAFLPDLEKLHLFPSD