A5348
HFE2 Rabbit polyclonal antibody
Size
£152.00
- SKU:
- A5348
- Additional Names:
- HFE2|HFE2A|JH|RGMC
- Application:
- ELISA, WB
- Molecular Weight:
- 52kDa
- Species Reactivity:
- Human
- Purification:
- Affinity Purified
- Storage Conditions:
- -20[o]C Avoid freeze/thaw cycles.
- Supplier:
- Abclonal
- Host:
- Rabbit
- Reactivities:
- Mouse, Rat
- Immunogen:
- Recombinant protein (or fragment).This information is considered to be commercially sensitive.
- Formulation:
- Unmodified
- Sequence:
- MQECIDQKVYQAEVDNLPVAFEDGSINGGDRPGGSSLSIQTANPGNHVEIQAAYIGTTIIIRQTAGQLSFSIKVAEDVAMAFSAEQDLQLCVGGCPPSQRLSRSERNRRGAITIDTARRLCKEGLPVEDAYFHSCVFDVLISGDPNFTVAAQAALEDARAFLPDLEKLHLFPSD
- Uniprot:
- Q6ZVN8
- Synonyms:
- haemojuvelin;hemochromatosis type 2 (juvenile);hemochromatosis type 2 protein;hemojuvelin;hemojuvelin BMP coreceptor;HFE2;HFE2A;JH;repulsive guidance molecule c;RGM domain family member C;RGMC
- Extra Details:
- 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.
- Shipping Conditions:
- Blue Ice