Mouse anti-Human HFE2 polyclonal antibody

Species Reactivity

Human

Immunogen

HFE2 (NP_973733, 93 a.a. ~ 173 a.a) partial recombinant protein with GST tag. The sequence is GGCPPSQRLSRSERNRRGAITIDTARRLCKEGLPVEDAYFHSCVFDVLISGDPNFTVAAQ AALEDARAFLPDLEKLHLFPS

Conjugate

Alternative Names

HFE2; hemochromatosis type 2 (juvenile); JH; HJV; RGMC; HFE2A; hemojuvelin; haemojuvelin; RGM domain family member C; repulsive guidance molecule c; hemochromatosis type 2 protein;

Entrez Gene ID

UniProt ID

Antigen 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.

Pathway

Axon guidance; Developmental Biology;